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Ron Wevers

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M Linssen; M Mohamed; Dirk J Lefeber; Ron A Wevers; Eva Morava
Thrombotic complications in patients with PMM2-CDG.
Maria Zulfiqar; Peter B Barker; Lonneke De Boer; Udo Engelke; Jill A Fahrner; ALENA HORSKA; Doris D M Lin; Sandrine Marie; Eva Morava; Marinette van der Graaf; Eileen P G Vining; Ron A Wevers; Michel A A P Willemsen; Gustavo Maegawa
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.

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All Publications

2013: M Linssen; M Mohamed; Dirk J Lefeber; Ron A Wevers; Eva Morava
Thrombotic complications in patients with PMM2-CDG.
Molecular genetics and metabolism 2013;109(1):107-11.
2013: Maria Zulfiqar; Peter B Barker; Lonneke De Boer; Udo Engelke; Jill A Fahrner; ALENA HORSKA; Doris D M Lin; Sandrine Marie; Eva Morava; Marinette van der Graaf; Eileen P G Vining; Ron A Wevers; Michel A A P Willemsen; Gustavo Maegawa
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Journal of magnetic resonance imaging : JMRI 2013;37(4):974-80.
2013: Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Journal of the neurological sciences 2013;326(1-2):24-8.
2013: Simone Funke; Thatjana Gardeitchik; Adrienne Horvath; Eckhard Korsch; Dorus Kouwenberg; Dirk J Lefeber; Miski Mohamed; Maciej Adamowicz; Lihadh Al-Gazali; Ron A Wevers; SB Wortmann; Eva Morava
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
American journal of medical genetics. Part A 2013;161(3):578-84.
2013: Livia Kapusta; Dirk J Lefeber; Avraham Lorber; Hanna Mandel; Benjamin Medalion; Sarah Morgenstern; Nadim Nasser; Ron A Wevers; Nili Zucker; Andreas Zuckermann; Tuvia Ben Gal; Einat Birk; Arjen de Brouwer; George Frenckel; Eva Morava
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Heart failure reviews 2013;18(2):187-96.
2012: Joris Fuijkschot; Marieke M B Seyger; Thomas Theelen; Marinette van der Graaf; Ronald J A Wanders; Hans R Waterham; Ron A Wevers; Imelda J M de Groot; Michèl A A P Willemsen
Sjögren-Larsson syndrome in clinical practice.
Journal of inherited metabolic disease 2012;35(6):955-62.
2012: Carla E M Hollak; Dirk J Lefeber; Gabor E Linthorst; M Mannens; Wouter Meersseman; Eva Morava; M F Mulder; Klary E Niezen-Koning; J M F G Aerts; Erik M Akkerman; David Cassiman; E S V de Sonnaville; Johanna E M Groener; Gepke Visser; Ron A Wevers; Frits A Wijburg; B J H M Poorthuis
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Molecular genetics and metabolism 2012;107(3):526-33.
2012: Björn Fischer; Thatjana Gardeitchik; Neerja Gupta; Julia Heusel; Dominik Jost; Madhulika Kabra; Hülya Kayserili; Alexa Kidd; Elisabeth Mangold; Eva Morava; Stefan Mundlos; Arti Nanda; Reto I Peirano; Shubha Phadke; Iliana Tantcheva-Poor; Lionel Van Maldergem; Ron A Wevers; Yasemin Alanay; Elisabeth Berry-Kravis; Cornelia Daumer-Haas; Charu Desphande; Aikaterini Dimopoulou; Johannes Egerer; Emma Felix; Uwe Kornak
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Human genetics 2012;131(11):1761-73.
2012: Rita Barone; Enrico Bertini; Massimo Carella; Daniela Concolino; Agata Fiumara; François Foulquier; Domenico Garozzo; Jaak Jaeken; Gert Matthijs; Eugenio Mercuri; Sonia Messina; Eva Morava; Chiara Passarelli; Valérie Race; Moniek Riemersma; Filippo Santorelli; Luisa Sturiale; Wendy Vleugels; Ron A Wevers; Chiara Aiello; Dirk J Lefeber
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Annals of neurology 2012;72(4):550-8.
2012: Eva Morava; Wolfgang M Schmidt; Sylvia Stockler; Jolanta Sykut-Cegielska; Julia Vodopiutz; Jolanta Wierzba; Zong H Zhang; Maciej Adamowicz; Olaf Bodamer; Chike B Item; Andreas R Janecke; Silvia Lechner; Dirk J Lefeber; Ludwig Lehle; Ivana Mihalek; Ron A Wevers
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Pediatrics 2012;130(4):e1034-9.
2012: SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
European journal of medical genetics 2012;55(10):552-6.
2012: Sharita Timal; Lambert van Den Heuvel; Francjan J van Spronsen; Joris Veltman; Ron A Wevers; Ludwig Lehle; Eva Morava; Justyna Paprocka; Richard J Rodenburg; Jolanta Sykut-Cegielska; Christian Thiel; Maciej Adamowicz; Ilse Eidhof; Christian Gilissen; Alexander Hoischen; Karin M L C Huijben; Ewa Jamroz; Christian Körner; Dirk J Lefeber
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Human molecular genetics 2012;21(19):4151-61.
2012: Levinus A Bok; Feico J Halbertsma; Saskia Houterman; Cornelis Jakobs; Deborah A Sival; Eduard Struys; Johannes H Van Der Hoeven; Charlotte Vreeswijk; Ron A Wevers; Michèl A Willemsen
Long-term outcome in pyridoxine-dependent epilepsy.
Developmental medicine and child neurology 2012;54(9):849-54.
2012: Gwendolyn Gramer; Erik-Jan Kamsteeg; René Santer; Daniel Vater; Ron A Wevers; Nicole I Wolf; Thomas Bast; Friedrich Ebinger
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Neuropediatrics 2012;43(3):168-71.
2012: M Binkhorst; S Funke; T Kozicz; Ron A Wevers; SB Wortmann; Eva Morava
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.
Journal of inherited metabolic disease 2012;35(3):399-405.
2012: Miski Mohamed; Karin M L C Huijben; Dorus Kouwenberg; Dirk J Lefeber; Miranda Theodore; Lotte van Dongen; Antonius E van Herwaarden; Ron A Wevers; Hedi Claahsen-van der Grinten; Eva Morava
Thyroid function in PMM2-CDG: diagnostic approach and proposed management.
Molecular genetics and metabolism 2012;105(4):681-3.
2012: Karin Tuschl; Ron A Wevers; Maha S Zaki; Victoria Price; Reinaldo T Ribeiro; Andrea Rideout; Pratibha Singhi; ROOSY AULAKH; Orlando G Barsottini; W K Kling Chong; Peter T Clayton; Maria Luz Del Rosario; Sarah Dyack; Kevin Gordon; Sidney M Gospe; Shamshad Gulab; Shahnaz Ibrahim; Philippa B Mills
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
American journal of human genetics 2012;90(3):457-66.
2012: Tessa Wassenberg; Ron A Wevers; Ben P B H Geurtz; Leo A H Monnens; Marcel M Verbeek; Michèl A A P Willemsen
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.
JIMD reports 2012;4():39-45.
2012: Rachel P L van Swelm; Ron A Wevers; Maro H Sandel; Daan J Touw; Ellen C van der Kuur; Kevin D Augustijn; Coby M M Laarakkers; Rosalinde Masereeuw; Eva Morava-Kozicz; Frans G M Russel
Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice.
PloS one 2012;7(11):e49524.
2012: Wilhelmina G Leen; Ron A Wevers; Michèl A Willemsen; Marcel M Verbeek
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.
PloS one 2012;7(8):e42745.
2011: Maïlys Guillard; Olaf Bodamer; Arjan de Brouwer; Jorg de Ruijter; Eva Morava; Johann Penzien; Tony Roscioli; Lambert van Den Heuvel; Ron A Wevers; Michel A Willemsen; Dirk J Lefeber
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
The Journal of pediatrics 2011;159(6):1041-3.e2.
2011: Samira Achouitar; Stephanie Austin; Deeksha Bali; Francoise M Blanpain; Keri Boyette; Martin den Heijer; Jennifer L Goldstein; Priya S Kishnani; Dirk J Lefeber; Miski Mohamed; Catherine W Rehder; Ron A Wevers; SB Wortmann; Eva Morava
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Molecular genetics and metabolism 2011;104(4):691-4.
2011: Maria Antonietta Mencarelli; Lucia Monti; Marzia Pollazzon; Sabrina Buoni; Marco Calderisi; Udo Engelke; Michele Falco; Marco Fichera; Joseph Hayek; Francesca Mari; Maria Tassini; Antonio Vivi; Ron A Wevers; Alessandra Renieri
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
American journal of medical genetics. Part A 2011;155A(10):2446-52.
2011: Miski Mohamed; Lihadh Al-Gazali; Vincent Cantagrel; Dirk J Lefeber; Ron A Wevers; Eva Morava
Normal glycosylation screening does not rule out SRD5A3-CDG.
European journal of human genetics : EJHG 2011;19(10):1019.
2011: Dorus Kouwenberg; Thatjana Gardeitchik; Johannes Häberle; Ron A Wevers; Eva Morava
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
American journal of medical genetics. Part A 2011;155A(9):2331-2; author reply 2333-4.
2011: Samira Achouitar; Hélène Ogier de Baulny; Maaike de Vries; Joanna Elson; Regina Ensenauer; Thatjana Gardeitchik; Stephanie Grünewald; Jaak Jaeken; Dorus Kouwenberg; Diego Martinelli; Robert McFarland; Miski Mohamed; Leo G J Nijtmans; Jolanta Sykut-Cegielska; Miranda Theodore; Ron A Wevers; Frits Wijburg; SB Wortmann; Katrin Ounap; Eva Morava
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
Journal of inherited metabolic disease 2011;34(4):923-7.
2011: Miski Mohamed; Thatjana Gardeitchik; Uwe Kornak; Dorus Kouwenberg; Ron A Wevers; Eva Morava
Metabolic cutis laxa syndromes.
Journal of inherited metabolic disease 2011;34(4):907-16.
2011: Mailys Guillard; Hana Hansikova; Alice Janssen; Machiko Kadoya; Eva Morava; Nina Ondruskova; Lambertus P W J Van den Heuvel; Katerina Vesela; Yoshinao Wada; Ron A Wevers; Isao Yuasa; Jiri Zeman; Dirk J Lefeber
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
Journal of inherited metabolic disease 2011;34(4):901-6.
2011: M Mohamed; M Guillard; SB Wortmann; S Cirak; E Marklova; H Michelakakis; E Korsch; Maciej Adamowicz; B Koletzko; F J van Spronsen; K E Niezen-Koning; Gert Matthijs; T Gardeitchik; D Kouwenberg; B Chan Lim; R Zeevaert; Ron A Wevers; Dirk J Lefeber; Eva Morava
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Biochimica et biophysica acta 2011;1812(6):691-8.
2011: Nicola Brunetti-Pierri; Pasquale Piccolo; Eva Morava; Ron A Wevers; Megan McGuirk; Yvette R Johnson; Zsolt Urban; Megan K Dishop; Lorraine Potocki
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Clinical dysmorphology 2011;20(2):77-81.
2011: Maïlys Guillard; Eva Morava; Floris L van Delft; Rosie Hague; Christian Körner; Maciej Adamowicz; Ron A Wevers; Dirk J Lefeber
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Clinical chemistry 2011;57(4):593-602.
2011: Siddharth Banka; Henk J Blom; John Walter; Majid Aziz; Jill Urquhart; Christopher M Clouthier; Gillian I Rice; Arjan P M de Brouwer; Emma Hilton; Grace Vassallo; Andrew Will; Desirée E C Smith; Yvo M Smulders; Ron A Wevers; Robert Steinfeld; Simon Heales; Yanick J Crow; Joelle N Pelletier; Simon Jones; William G Newman
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
American journal of human genetics 2011;88(2):216-25.
2011: Eva Morava; Jirko Kühnisch; Jefte M Drijvers; Joris H Robben; Cor Cremers; Petra van Setten; Amanda Branten; Sabine Stumpp; Alphons de Jong; Krysta Voesenek; Sascha Vermeer; Angelien Heister; Hedi L Claahsen-van der Grinten; Charles W O'Neill; Michèl A Willemsen; Dirk J Lefeber; Peter M T Deen; Uwe Kornak; Hannie Kremer; Ron A Wevers
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
The Journal of clinical endocrinology and metabolism 2011;96(1):E189-98.
2010: Marlies J Valstar; Sanne Neijs; Hennie T Bruggenwirth; Renske Olmer; George J G Ruijter; Ron A Wevers; Otto P van Diggelen; Ben J Poorthuis; Dicky J Halley; Frits A Wijburg
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Annals of neurology 2010;68(6):876-87.
2010: Marlies J Valstar; Hennie T Bruggenwirth; Renske Olmer; Ron A Wevers; Frans W Verheijen; Ben J Poorthuis; Dicky J Halley; Frits A Wijburg
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
Journal of inherited metabolic disease 2010;33(6):759-67.
2010: T Wassenberg; Michèl A A P Willemsen; P B H Geurtz; Martin Lammens; Kiek Verrijp; Martijn J G Wilmer; W T Lee; Ron A Wevers; Marcel M Verbeek
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
Molecular genetics and metabolism 2010;101(4):349-56.
2010: Prabath W B Nanayakkara; Martina Meijboom; Mark H H Kramer; Ron A Wevers; Cornelis Jakobs
What have we here? A man or a fish?
Lancet 2010;376(9753):1710.
2010: D Wallon; L Guyant-Maréchal; A Laquerrière; Ron A Wevers; O Martinaud; L A J Kluijtmans; Helger G Yntema; P Saugier-Veber; D Hannequin
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.
Clinical neuropathology 2010;29(6):361-4.
2010: Beate Albrecht; Arjan P de Brouwer; Dirk J Lefeber; Kirsten Cremer; Ingrid Hausser; Nick Rossen; Saskia B Wortmann; Ron A Wevers; Uwe Kornak; Eva Morava
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
American journal of medical genetics. Part A 2010;152A(11):2916-8.
2010: Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin M L C Huijben; Conny van Ravenswaaij-Arts; Marjolijn Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michèl A A P Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Brain : a journal of neurology 2010;133(11):3210-20.
2010: Udo F H Engelke; Fokje S M Zijlstra; Fanny Mochel; Vassili Valayannopoulos; Daniel Rabier; Leo A J Kluijtmans; András Perl; Nanda M Verhoeven-Duif; Pascale de Lonlay; Mirjam M C Wamelink; Cornelis Jakobs; Eva Morava; Ron A Wevers
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Biochimica et biophysica acta 2010;1802(11):1028-35.
2010: SB Wortmann; B H Kremer; A Graham; Michèl A A P Willemsen; Ference J Loupatty; S L Hogg; Udo F H Engelke; L A Kluijtmans; Ronald J A Wanders; S Illsinger; B Wilcken; J R M Cruysberg; A M Das; Eva Morava; Ron A Wevers
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
Neurology 2010;75(12):1079-83.
2010: C C S Delnooz; Dirk J Lefeber; S M C Langemeijer; S Hoffjan; G Dekomien; Machiel J Zwarts; B G M van Engelen; Ron A Wevers; H Jurgen Schelhaas; Bart P C van de Warrenburg
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.
Journal of neurology, neurosurgery, and psychiatry 2010;81(9):968-72.
2010: Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; bassam rushdi ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell 2010;142(2):203-17.
2010: Eva Kolwijck; Charlotte Lybol; Johan Bulten; Jos H A Vollebergh; Ron A Wevers; L F A G Massuger
Prevalence of cysts in epithelial ovarian cancer.
European journal of obstetrics, gynecology, and reproductive biology 2010;151(1):96-100.
2010: J M Drijvers; Dirk J Lefeber; S A de Munnik; Rolph Pfundt; N van de Leeuw; Carlo L M Marcelis; C Thiel; C Koerner; Ron A Wevers; Eva Morava
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Clinical genetics 2010;77(5):507-9.
2010: Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation 2010;31(5):E1348-60.
2010: Raffaella Zannolli; Sabrina Buoni; Maria Tassini; Anna De Nicola; Gianni Betti; Claudio De Felice; Alessandra Orsi; Maria Concetta Varetti; Francesco Ferrara; Mario Messina; Cosimo Giannini; Angelika Mohn; Francesco Chiarelli; Marco Liberati; Mirella Strambi; Silvia Funghini; Antonio Vivi; Ron A Wevers; Joseph Hayek
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
NMR in biomedicine 2010;23(4):353-8.
2010: Nils P J Vogtländer; Johan Van der Vlag; Marinka A H Bakker; Henry B P M Dijkman; Ron A Wevers; Kevin P Campbell; Jack F M Wetzels; Jo H M Berden
Expression of sialidase and dystroglycan in human glomerular diseases.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010;25(2):478-84.
2010: Fanny Mochel; Udo F H Engelke; J Barritault; B Yang; N H McNeill; J N Thompson; A Vanderver; N I Wolf; M A Willemsen; F W Verheijen; F Seguin; Ron A Wevers; R Schiffmann
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Neurology 2010;74(4):302-5.
2010: Eva Kolwijck; Ron A Wevers; Udo F H Engelke; Jannes Woudenberg; Johan Bulten; Henk J Blom; L F A G Massuger
Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate.
PloS one 2010;5(4):e10293.
2010: Maria Tassini; Raffaella Zannolli; Sabrina Buoni; Udo Engelke; Antonio Vivi; Gianni Valensin; Gajja S Salomons; Anna De Nicola; Mirella Strambi; Lucia Monti; Eva Morava; Ron A Wevers; Joseph Hayek
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.
Journal of child neurology 2010;25(1):98-101.
2009: SB Wortmann; G Dekomien; Dirk J Lefeber; Ron A Wevers; M A A P Willemsen; Eva Morava
Substrate deprivation therapy in juvenile Sandhoff disease.
Journal of inherited metabolic disease 2009;32 Suppl 1():S307-11.
2009: Muireann Coen; Ron A Wevers; John C Lindon; Henk J Blom
High-resolution 1H NMR spectroscopic investigation of a chick embryo model of neural tube development.
Magnetic resonance in chemistry : MRC 2009;47 Suppl 1():S62-7.
2009: Eva Kolwijck; Udo F H Engelke; Marinette van der Graaf; Arend Heerschap; Henk J Blom; M'hamed Hadfoune; Wim A Buurman; L F A G Massuger; Ron A Wevers
N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors.
NMR in biomedicine 2009;22(10):1093-9.
2009: Eva Morava; Ulrike Steuerwald; Rosalba Carrozzo; Leo A J Kluijtmans; Frodi Joensen; René Santer; Carlo Dionisi Vici; Ron A Wevers
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Mitochondrion 2009;9(6):438-42.
2009: Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Autosomal recessive cutis laxa syndrome revisited.
European journal of human genetics : EJHG 2009;17(9):1099-110.
2009: Mailys Guillard; Aikaterini Dimopoulou; Björn Fischer; Eva Morava; Dirk J Lefeber; Uwe Kornak; Ron A Wevers
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
Biochimica et biophysica acta 2009;1792(9):903-14.
2009: Maïlys Guillard; Jolein Gloerich; Hans J C T Wessels; Eva Morava; Ron A Wevers; Dirk J Lefeber
Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry.
Carbohydrate research 2009;344(12):1550-7.
2009: Roel Nijland; Francis E Hartog; Ron A Wevers; Ronald J A Wanders; Wim N P Willemsen
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
Journal of pediatric and adolescent gynecology 2009;22(4):229-31.
2009: Dirk J Lefeber; Johannes Schönberger; Eva Morava; Mailys Guillard; Karin M Huyben; Kiek Verrijp; Olga Grafakou; Athanasios Evangeliou; Frank W Preijers; Panagiota Manta; Jef Yildiz; Stephanie Grünewald; Martha Spilioti; Christa van den Elzen; Dominique Klein; daniel Hess; Hisashi Ashida; Jan Hofsteenge; Yusuke Maeda; Lambert van Den Heuvel; Martin Lammens; Ludwig Lehle; Ron A Wevers
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
American journal of human genetics 2009;85(1):76-86.
2009: Vishwanathan Hucthagowder; Eva Morava; Uwe Kornak; Dirk J Lefeber; Björn Fischer; Aikaterini Dimopoulou; Annika Aldinger; Jiwon Choi; Elaine C Davis; Dianne N Abuelo; Maciej Adamowicz; Jumana Al-Aama; Lina Basel-Vanagaite; Bridget Fernandez; Marie T Greally; Gabriele Gillessen-Kaesbach; Hulya Kayserili; Emmanuelle Lemyre; Mustafa Tekin; Seval Türkmen; Beyhan Tuysuz; Berrin Yüksel-Konuk; Stefan Mundlos; Lionel Van Maldergem; Ron A Wevers; Zsolt Urban
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Human molecular genetics 2009;18(12):2149-65.
2009: Fanny Mochel; Bingzhi Yang; Julie Barritault; Jerry N Thompson; Udo F H Engelke; Nathan H McNeill; William S Benko; Christine R Kaneski; David R Adams; Maria Tsokos; Mones Abu-Asab; Marjan Huizing; Francois Seguin; Ron A Wevers; Jiahuan Ding; Frans W Verheijen; Raphael Schiffmann
Free sialic acid storage disease without sialuria.
Annals of neurology 2009;65(6):753-7.
2009: Udo F H Engelke; Maria Tassini; Joseph Hayek; Maaike de Vries; Appie Bilos; Antonio Vivi; Gianni Valensin; Sabrina Buoni; Raffaella Zannolli; Wim Brussel; Berry Kremer; Gajja S Salomons; Monique J B M Veendrick-Meekes; Leo A J Kluijtmans; Eva Morava; Ron A Wevers
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
NMR in biomedicine 2009;22(5):538-44.
2009: Dimitrios I Zafeiriou; Michèl A A P Willemsen; Marcel M Verbeek; Euthymia Vargiami; A Ververi; Ron A Wevers
Tyrosine hydroxylase deficiency with severe clinical course.
Molecular genetics and metabolism 2009;97(1):18-20.
2009: Aad Verrips; Ron A Wevers; Francjan J van Spronsen; Henri Sikkens
[The right medicine for cerebrotendinous xanthomatosis].
Nederlands tijdschrift voor geneeskunde 2009;153(15):726-7.
2009: C Noordam; S Funke; Nine V A M Knoers; PE Jira; Ron A Wevers; Z Urban; Eva Morava
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Acta paediatrica (Oslo, Norway : 1992) 2009;98(3):490-4.
2009: Eva Morava; H N Wosik; Jolanta Sykut-Cegielska; Maciej Adamowicz; M Guillard; Ron A Wevers; Dirk J Lefeber; J R M Cruysberg
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.
The British journal of ophthalmology 2009;93(3):350-4.
2009: Ewa Jamroz; Dariusz Adamek; Justyna Paprocka; Maciej Adamowicz; Elzbieta Marszał; Ron A Wevers
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Journal of child neurology 2009;24(1):13-8.
2009: SB Wortmann; Richard J T Rodenburg; An Jonckheere; Maaike C de Vries; Marjan Huizing; Katrin Heldt; Lambert P van den Heuvel; Udo Wendel; Leo A J Kluijtmans; Udo F Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Brain : a journal of neurology 2009;132(Pt 1):136-46.
2008: Marcel M Verbeek; A M Blom; Ron A Wevers; Aart J Lagerwerf; J van de Geer; Michèl A A P Willemsen
Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations.
Molecular genetics and metabolism 2008;95(3):127-32.
2008: Gerben Truin; Mailys Guillard; Dirk J Lefeber; Jolanta Sykut-Cegielska; Maciej Adamowicz; Esther Hoppenreijs; Rob C A Sengers; Ron A Wevers; Eva Morava
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.
Molecular genetics and metabolism 2008;94(4):481-4.
2008: Marcel M Verbeek; Michèl A A P Willemsen; Ron A Wevers; Aart J Lagerwerf; N G G M Abeling; Nenad Blau; Beat Thöny; Euthymia Vargiami; Dimitrios I Zafeiriou
Two Greek siblings with sepiapterin reductase deficiency.
Molecular genetics and metabolism 2008;94(4):403-9.
2008: Marian A Kroos; Reinier A Mullaart; Laura Van Vliet; Robert J Pomponio; Hernan Amartino; Edwin H Kolodny; Gregory M Pastores; Ron A Wevers; Ans T Van Der Ploeg; D J J Halley; Arnold J J Reuser
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
European journal of human genetics : EJHG 2008;16(8):875-9.
2008: Eva Morava; H Wosik; Judit Kárteszi; M Guillard; Maciej Adamowicz; Jolanta Sykut-Cegielska; K Hadzsiev; Ron A Wevers; Dirk J Lefeber
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
Journal of inherited metabolic disease 2008;31(3):450-6.
2008: Mirjam M C Wamelink; Eduard A Struys; Erwin E W Jansen; Elena N Levtchenko; Fokje S M Zijlstra; Udo Engelke; Henk J Blom; Cornelis Jakobs; Ron A Wevers
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Human mutation 2008;29(4):532-6.
2008: G J G Ruijter; M J Valstar; J M van de Kamp; R M van der Helm; S Durand; Otto P van Diggelen; Ron A Wevers; B J H M Poorthuis; Alexey V Pshezhetsky; Frits A Wijburg
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Molecular genetics and metabolism 2008;93(2):104-11.
2008: Udo F H Engelke; Jörn Oliver Sass; Rudy Van Coster; Erik Gerlo; Heike Olbrich; Stefan Krywawych; Jacqui Calvin; Claire Hart; Heymut Omran; Ron A Wevers
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
NMR in biomedicine 2008;21(2):138-47.
2008: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk J Lefeber; Zsolt Urban; Stephanie Gruenewald; Willem ANNAERT; Han G Brunner; Hans van Bokhoven; Ron A Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics 2008;40(1):32-4.
2008: Eva Morava; Dirk J Lefeber; Z Urban; Linda De Meirleir; Peter Meinecke; Gabriele Gillessen-Kaesbach; Jolanta Sykut-Cegielska; Maciej Adamowicz; I Salafsky; J Ranells; E Lemyre; Jeroen van Reeuwijk; Han G Brunner; Ron A Wevers
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
European journal of human genetics : EJHG 2008;16(1):28-35.
2007: Marcel M Verbeek; Gerry C H Steenbergen-Spanjers; Michèl A A P Willemsen; Frans A Hol; jan smeitink; Jürgen Seeger; Padraic Grattan-Smith; Monique M Ryan; Georg F Hoffmann; Maria A Donati; Nenad Blau; Ron A Wevers
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Annals of neurology 2007;62(4):422-6.
2007: S Vermeer; H P H Kremer; Q H Leijten; Hans Scheffer; Gert Matthijs; Ron A Wevers; N A V M Knoers; Eva Morava; Dirk J Lefeber
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Journal of neurology 2007;254(10):1356-8.
2007: Arjan de Brouwer; Kelly L Williams; John A Duley; André B P van Kuilenburg; Sander B Nabuurs; Michael Egmont-Petersen; Dorien Lugtenberg; Lida Zoetekouw; Martijn J G Banning; Melissa Roeffen; Ben C J Hamel; Linda S Weaving; Robert Ouvrier; Jennifer A Donald; Ron A Wevers; John Christodoulou; Hans van Bokhoven
Arts syndrome is caused by loss-of-function mutations in PRPS1.
American journal of human genetics 2007;81(3):507-18.
2007: Maciej Adamowicz; R Płoski; Dariusz Rokicki; Eva Morava; M Gizewska; Hanna Mierzewska; Agnieszka Pollak; Dirk J Lefeber; Ron A Wevers; Ewa Pronicka
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.
Journal of inherited metabolic disease 2007;30(3):407.
2007: Eva Morava; Renate Zeevaert; Eckhard Korsch; Karin M L C Huijben; Suzan Wopereis; Gert Matthijs; Kathelijn Keymolen; Dirk J Lefeber; Linda De Meirleir; Ron A Wevers
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
European journal of human genetics : EJHG 2007;15(6):638-45.
2007: Els Schollen; Liesbeth Keldermans; François Foulquier; Paz Briones; Amparo Chabas; Félix Sánchez-Valverde; Maciej Adamowicz; Ewa Pronicka; Ron A Wevers; Gert Matthijs
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Molecular genetics and metabolism 2007;90(4):408-13.
2007: Marcel M Verbeek; P B H Geurtz; Michèl A A P Willemsen; Ron A Wevers
Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.
Molecular genetics and metabolism 2007;90(4):363-9.
2007: J M van de Kamp; D J Lefeber; G J G Ruijter; S J Steggerda; N S den Hollander; Stefan Willems; G Matthijs; B J H M Poorthuis; Ron A Wevers
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
Journal of medical genetics 2007;44(4):277-80.
2007: Rosalba Carrozzo; Carlo Dionisi Vici; Ulrike Steuerwald; Simona Lucioli; Federica Deodato; Sivia Di Giandomenico; Enrico Bertini; Barbara Franke; Leo A J Kluijtmans; Maria Chiara Meschini; Cristiano Rizzo; Fiorella Piemonte; Richard J T Rodenburg; René Santer; Filippo M Santorelli; Arno van Rooij; Diana Vermunt-de Koning; Eva Morava; Ron A Wevers
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain : a journal of neurology 2007;130(Pt 3):862-74.
2007: Tessa J M Wijnhoven; Joost Lensen; Ronnie G P Wismans; Mohammed Lamrani; Leo A H Monnens; Ron A Wevers; Angelique L W M M Rops; Johan Van der Vlag; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria.
Journal of the American Society of Nephrology : JASN 2007;18(3):823-32.
2007: Jolein Gloerich; Ron A Wevers; Jan A M Smeitink; B G M van Engelen; Lambert P van den Heuvel
Proteomics approaches to study genetic and metabolic disorders.
Journal of proteome research 2007;6(2):506-12.
2007: Suzan Wopereis; Stephanie Grünewald; Karin M L C Huijben; Eva Morava; Rosella Mollicone; B G M van Engelen; Dirk J Lefeber; Ron A Wevers
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.
Clinical chemistry 2007;53(2):180-7.
2006: Martin Hrebícek; Lenka Mrázová; Volkan Seyrantepe; Stéphanie Durand; Nicole M Roslin; Lenka Nosková; Hana Hartmannová; Robert Ivanek; Alena Cízkova; Helena Poupetová; Jakub Sikora; Jana Urinovská; Viktor Stranecký; Jirí Zeman; Pierre Lepage; David Roquis; Andrei Verner; Jérôme Ausseil; Clare E Beesley; Irène Maire; B J H M Poorthuis; Jiddeke van de Kamp; Otto P van Diggelen; Ron A Wevers; Thomas J Hudson; T Mary Fujiwara; Jacek Majewski; Kenneth Morgan; Stanislav Kmoch; Alexey V Pshezhetsky
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
American journal of human genetics 2006;79(5):807-19.
2006: Michèl A A P Willemsen; Udo F H Engelke; Marinette van der Graaf; Ron A Wevers
Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid.
Neuropediatrics 2006;37(5):312-4.
2006: Alexandra Tészás; Zoltán Pfund; Eva Morava; György Kosztolányi; Erik A Sistermans; Ron A Wevers; Richard Kellermayer
Presenile cataract: consider cholestanol.
Archives of ophthalmology 2006;124(10):1490-2.
2006: Angelique J A Kooper; P M W Janssens; Akosua N J A de Groot; Maria L F Liebrand-van Sambeek; Catharina J M G van den Berg; Gita B Tan-Sindhunata; Paul P van den Berg; Emilia K Bijlsma; Arie P T Smits; Ron A Wevers
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Clinica chimica acta; international journal of clinical chemistry 2006;371(1-2):176-82.
2006: Erik Gerlo; Rudy Van Coster; Willy Lissens; Gerda Winckelmans; Linda De Meirleir; Ron A Wevers
Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.
Analytica chimica acta 2006;571(2):191-9.
2006: Marlies Oostendorp; Udo F H Engelke; Michèl A A P Willemsen; Ron A Wevers
Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.
Clinical chemistry 2006;52(7):1395-405.
2006: Suzan Wopereis; Umi M Abd Hamid; Alison Critchley; Louise Royle; Raymond A Dwek; Eva Morava; Jules G Leroy; Bridget Wilcken; Aart J Lagerwerf; Karin M L C Huijben; Dirk J Lefeber; Pauline M Rudd; Ron A Wevers
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.
Biochimica et biophysica acta 2006;1762(6):598-607.
2006: SB Wortmann; Richard J T Rodenburg; Marjan Huizing; Ference J Loupatty; Tom J de Koning; Leo A J Kluijtmans; Udo F H Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Molecular genetics and metabolism 2006;88(1):47-52.
2006: Udo F H Engelke; Berry Kremer; Leo A J Kluijtmans; Marinette van der Graaf; Eva Morava; Ference J Loupatty; Ronald J A Wanders; Detlef Moskau; Sandra Loss; Erik van den Bergh; Ron A Wevers
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
NMR in biomedicine 2006;19(2):271-8.
2006: Suzan Wopereis; Dirk J Lefeber; Eva Morava; Ron A Wevers
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.
Clinical chemistry 2006;52(4):574-600.
2006: Jorn Oliver Sass; Verena Mohr; Heike Olbrich; Udo Engelke; Judit Horvath; Manfred Fliegauf; Niki Tomas Loges; Susanne Schweitzer-Krantz; Ralf Moebus; Polly Weiler; Andreas Kispert; andrea superti-furga; Ron A Wevers; Heymut Omran
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
American journal of human genetics 2006;78(3):401-9.
2006: Ziad Albahri; Eliska Marklová; Petr Dedek; Helena Hojdíková; Zdenek Fiedler; Dirk J Lefeber; Ron A Wevers; Eva Morava; Suzan Wopereis
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.
European journal of pediatrics 2006;165(3):203-4.
2006: Birgit Assmann; G Göhlich; M Baethmann; Ron A Wevers; Albert H van Gennip; André B P van Kuilenburg; C Dietrich; L Wagner; J J Rotteveel; Jörg Schaper; Ertan Mayatepek; Georg F Hoffmann; Thomas Voit
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
Neuropediatrics 2006;37(1):20-5.
2006: Joost Nicolai; Vivianne H J M van Kranen-Mastenbroek; Ron A Wevers; Wilfred A P T Hurkx; Johan S H Vles
Folinic acid-responsive seizures initially responsive to pyridoxine.
Pediatric neurology 2006;34(2):164-7.
2006: André B P van Kuilenburg; Rutger Meinsma; B Assman; G F Hoffman; Thomas Voit; Antonia Ribes; Isabel Lorente; R Busch; Ertan Mayatepek; N G G M Abeling; Ron A Wevers; F Rutsch; Albert H van Gennip
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
Nucleosides, nucleotides & nucleic acids 2006;25(9-11):1093-8.
2006: Alessandro P Burlina; B Schmitt; U Engelke; Ron A Wevers; Alberto Burlina; Eugen Boltshauser
Hypoacetylaspartia: clinical and biochemical follow-up of a patient.
Advances in experimental medicine and biology 2006;576():283-7; discussion 361-3.
2006: Eva Morava; Michèl A A P Willemsen; Suzan Wopereis; Henk ter Laak; Dirk J Lefeber; Ron A Wevers; J R M Cruysberg
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.
European journal of ophthalmology 2006;16(1):190-4.
2005: Rudy Van Coster; Erik Gerlo; Thierry Giardina; Udo F H Engelke; Joél Smet; Claudine De Praeter; V A Meersschaut; Linda De Meirleir; Sara Seneca; Bart Devreese; Jules G Leroy; S Herga; Josette Perrier; Ron A Wevers; Willy Lissens
Aminoacylase I deficiency: a novel inborn error of metabolism.
Biochemical and biophysical research communications 2005;338(3):1322-6.
2005: Lucie Guyant-Maréchal; Aad Verrips; Carole Girard; Ron A Wevers; Fokje Zijlstra; Erik A Sistermans; Pierre Vera; Dominique Campion; Didier Hannequin
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.
American journal of medical genetics. Part A 2005;139A(2):114-7.
2005: Suzan Wopereis; Eva Morava; Stephanie Grünewald; Maciej Adamowicz; Karin M L C Huijben; Dirk J Lefeber; Ron A Wevers
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
Glycobiology 2005;15(12):1312-9.
2005: Murtada H Farhoud; Hans J C T Wessels; Ron A Wevers; B G M van Engelen; Lambert P van den Heuvel; Jan A M Smeitink
Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principle.
Journal of proteome research 2005;4(6):2364-8.
2005: Murtada H Farhoud; Hans J C T Wessels; Peter J M Steenbakkers; Sandy Mattijssen; Ron A Wevers; B G M van Engelen; Mike S.M. Jetten; Jan A M Smeitink; Lambert P van den Heuvel; Jan T Keltjens
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry.
Molecular & cellular proteomics : MCP 2005;4(11):1653-63.
2005: Michèl A A P Willemsen; Annelies M C Mavinkurve-Groothuis; Ron A Wevers; Jan J Rotteveel; Cornelis Jakobs
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy.
Annals of neurology 2005;58(4):653.
2005: Michèl A A P Willemsen; Ron A Wevers; Marcel M Verbeek; Marcel M Vebeek
Cerebral folate deficiency syndrome.
The New England journal of medicine 2005;353(7):740; author reply 740.
2005: Udo F H Engelke; Albert Tangerman; Michèl A A P Willemsen; Detlef Moskau; Sandra Loss; S Harvey Mudd; Ron A Wevers
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.
NMR in biomedicine 2005;18(5):331-6.
2005: Suzan Wopereis; Eva Morava; Stephanie Grünewald; Philippa B Mills; Bryan Winchester; Peter Clayton; Paul Coucke; Karin M L C Huijben; Ron A Wevers
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Biochimica et biophysica acta 2005;1741(1-2):156-64.
2005: Eva Morava; Suzan Wopereis; Paul Coucke; Gabriele Gillessen-Kaesbach; Thomas Voit; jan smeitink; Ron A Wevers; Stephanie Grünewald
Defective protein glycosylation in patients with cutis laxa syndrome.
European journal of human genetics : EJHG 2005;13(4):414-21.
2005: G J G Ruijter; Marijke A Boer; cas weykamp; R de Vries; Inge E T van den Berg; J Janssens-Puister; Klary E Niezen-Koning; Ron A Wevers; B J H M Poorthuis; Otto P van Diggelen
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.
Journal of inherited metabolic disease 2005;28(6):979-90.
2005: Eva Morava; SB Wortmann; H Zweers van Essen; R Liebrand van Sambeek; Ron A Wevers; Otto P van Diggelen
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
Journal of inherited metabolic disease 2005;28(5):703-6.
2004: André B P van Kuilenburg; Rutger Meinsma; Eva Beke; Birgit Assmann; Antonia Ribes; Isabel Lorente; Rebekka Busch; Ertan Mayatepek; N G G M Abeling; Arno van Cruchten; Alida E M Stroomer; Henk Van Lenthe; Lida Zoetekouw; Willem Kulik; Georg F Hoffmann; Thomas Voit; Ron A Wevers; Frank Rutsch; Albert H van Gennip
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Human molecular genetics 2004;13(22):2793-801.
2004: A Schiller; Ron A Wevers; G C H Steenbergen; N Blau; H H Jung
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
Neurology 2004;63(8):1524-6.
2004: jaap deinum; A H van den Meiracker; F Boomsma; F J van Ittersum; Ron A Wevers; Jacques W M Lenders
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension].
Nederlands tijdschrift voor geneeskunde 2004;148(36):1771-5.
2004: Eva Morava; Beatrix Cser; Judit Kárteszi; Karin M L C Huijben; Laszlo Szonyi; Gyorgy Kosztolanyi; Ron A Wevers
Screening for CDG type Ia in Joubert syndrome.
Medical science monitor : international medical journal of experimental and clinical research 2004;10(8):CR469-72.
2004: Els Schollen; Christian G Frank; Liesbeth Keldermans; R Reyntjens; Claudia E Grubenmann; Peter T Clayton; Bryan Winchester; Jan A M Smeitink; Ron A Wevers; Markus Aebi; Thierry Hennet; Gert Matthijs
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Journal of medical genetics 2004;41(7):550-6.
2004: Ingrid P C Krapels; Iris A L M Rooij; Ron A Wevers; Gerhard A Zielhuis; Paul H M Spauwen; Wim Brussel; Régine P M Steegers-Theunissen
Myo-inositol, glucose and zinc status as risk factors for non-syndromic cleft lip with or without cleft palate in offspring: a case-control study.
BJOG : an international journal of obstetrics and gynaecology 2004;111(7):661-8.
2004: Henri J L M Timmers; jaap deinum; Ron A Wevers; Jacques W M Lenders
Congenital dopamine-beta-hydroxylase deficiency in humans.
Annals of the New York Academy of Sciences 2004;1018():520-3.
2004: Birgit Assmann; R O Robinson; Robert Surtees; Christa Bräutigam; Simon J R Heales; Ron A Wevers; Johannes Zschocke; Keith Hyland; R Sharma; Georg F Hoffmann
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.
Neurology 2004;62(10):1872-4.
2004: Nicole I Wolf; Michèl A A P Willemsen; Udo F H Engelke; Marjo S van der Knaap; Petra J W Pouwels; Inga Harting; Johannes Zschocke; Erik A Sistermans; Dietz Rating; Ron A Wevers
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.
Neurology 2004;62(9):1503-8.
2004: Anna Simon; H P H Kremer; Ron A Wevers; Hans Scheffer; Jan G N de Jong; J W M Van Der Meer; Joost P H Drenth
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neurology 2004;62(6):994-7.
2004: P M W Janssens; Akosua N J A de Groot; Jan G N de Jong; Maria L F Liebrand-van Sambeek; Arie P T Smits; Ron A Wevers
[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases].
Nederlands tijdschrift voor geneeskunde 2004;148(6):264-8.
2004: Pascal M W Groenen; Udo F Engelke; Ron A Wevers; Jan C M Hendriks; Tom K A B Eskes; Hans M W M Merkus; Régine P M Steegers-Theunissen
High-resolution 1H NMR spectroscopy of amniotic fluids from spina bifida fetuses and controls.
European journal of obstetrics, gynecology, and reproductive biology 2004;112(1):16-23.
2004: Nicole I Wolf; D Haas; Georg F Hoffmann; C Jakobs; Gajja S Salomons; Ron A Wevers; Udo F H Engelke; Dietz Rating
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
Journal of inherited metabolic disease 2004;27(2):291-3.
2004: Deborah Bartholdi; Dominik Zumsteg; Aad Verrips; Ron A Wevers; Erik A Sistermans; K Hess; H H Jung
Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
Journal of neurology 2004;251(1):105-7.
2004: Udo F H Engelke; Maria L F Liebrand-van Sambeek; Jan G N de Jong; Jules G Leroy; Eva Morava; Jan A M Smeitink; Ron A Wevers
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.
Clinical chemistry 2004;50(1):58-66.
2003: Pascal M W Groenen; Petronella G M Peer; Ron A Wevers; Dorine W Swinkels; Barbara Franke; Edwin C M Mariman; Régine P M Steegers-Theunissen
Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida.
American journal of obstetrics and gynecology 2003;189(6):1713-9.
2003: Suzan Wopereis; Stephanie Grünewald; Eva Morava; Johannes M Penzien; Paz Briones; Maria Teresa García-Silva; Pierre N M Demacker; Karin M L C Huijben; Ron A Wevers
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
Clinical chemistry 2003;49(11):1839-45.
2003: PE Jira; Hans R Waterham; R J A Wanders; Jan A M Smeitink; Rob C A Sengers; Ron A Wevers
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Annals of human genetics 2003;67(Pt 3):269-80.
2003: Johan L K Van Hove; Ron A Wevers; Johan Van Cleemput; Philippe Moerman; Raf Sciot; Gert Matthijs; Els Schollen; Jan G N de Jong; William F Carey; Viv Muller; Cath Nicholls; Kelly Perkins; John J Hopwood
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
American journal of medical genetics. Part A 2003;118A(4):382-7.
2003: Ana Mazón Ramos; Alberto Gil-Setas; Sara Berrade Zubiri; Trinidad Bandrés Echeverri; Ron A Wevers; Udo F H Engelke; Johannes Zschocke
[Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain].
Medicina clínica 2003;120(6):219-21.
2003: Pascal M W Groenen; Ron A Wevers; Fokje S M Janssen; Joep H A M Tuerlings; J M W M Merkus; Régine P M Steegers-Theunissen
Are myo-inositol, glucose and zinc concentrations in amniotic fluid of fetuses with spina bifida different from controls?
Early human development 2003;71(1):1-8.
2003: Georg F Hoffmann; Birgit Assmann; Christa Bräutigam; Carlo Dionisi Vici; Martin Häussler; J B C de Klerk; Markus Naumann; Gerry C H Steenbergen-Spanjers; Hans-Michael Strassburg; Ron A Wevers
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
Annals of neurology 2003;54 Suppl 6():S56-65.
2003: Jakub Sikora; H Pavlu-Pereira; Milan Elleder; H Roelofs; Ron A Wevers
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.
Annals of human genetics 2003;67(Pt 1):63-70.
2003: Eva Morava; György Kosztolányi; Udo F H Engelke; Ron A Wevers
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
Annals of clinical biochemistry 2003;40(Pt 1):108-11.
2003: Wim Ruitenbeek; Keiko Kobayashi; Mikio Iijima; Jan A M Smeitink; Udo F H Engelke; Ronney A De Abreu; Hanneke T Kwast; Takeyori Saheki; Carolien A Boelen; Jan G N de Jong; Ron A Wevers
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
Annals of clinical biochemistry 2003;40(Pt 1):102-7.
2003: Pascal M W Groenen; Hans M W M Merkus; Fred C G J Sweep; Ron A Wevers; Fokje S M Janssen; Régine P M Steegers-Theunissen
Kinetics of myo-inositol loading in women of reproductive age.
Annals of clinical biochemistry 2003;40(Pt 1):79-85.
2003: Dieneke Z B van Asselt; Chris M G Thomas; Martin F G Segers; Henk J Blom; Ron A Wevers; Willibrord H L Hoefnagels
Cobalamin-binding proteins in normal and cobalamin-deficient older subjects.
Annals of clinical biochemistry 2003;40(Pt 1):65-9.
2003: Sytske H Moolenaar; Udo F H Engelke; Ron A Wevers
Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism.
Annals of clinical biochemistry 2003;40(Pt 1):16-24.
2003: Lambert P van den Heuvel; Murtada H Farhoud; Ron A Wevers; B G M van Engelen; Jan A M Smeitink
Proteomics and neuromuscular diseases: theoretical concept and first results.
Annals of clinical biochemistry 2003;40(Pt 1):9-15.
2002: Peter T Clayton; Aad Verrips; Erik A Sistermans; A Mann; G Mieli-Vergani; Ron A Wevers
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Journal of inherited metabolic disease 2002;25(6):501-13.
2002: Agata Fiumara; Christa Bräutigam; Keith Hyland; R Sharma; L Lagae; B Stoltenborg; Georg F Hoffmann; Jaak Jaeken; Ron A Wevers
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
Neuropediatrics 2002;33(4):203-8.
2002: Johan L K Van Hove; Rita Van Damme-Lombaerts; Stephanie Grünewald; Heidi Peters; Boudewijn Van Damme; Jean-Pierre Fryns; Jozef Arnout; Ron A Wevers; E Regula Baumgartner; Brian Fowler
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
American journal of medical genetics 2002;111(2):195-201.
2002: Anne-Marie Van Cappellen Van Walsum; Henk Jongsma; Ron A Wevers; Jan G Nijhuis; Jane Crevels; Udo F H Engelke; Ronney A De Abreu; Sytske H Moolenaar; Berend Oeseburg; Roel Nijland
1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recovery.
Pediatric research 2002;52(1):56-63.
2002: Mireille van Beekvelt; Ron A Wevers; B G M van Engelen; Willy Colier
Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis.
Journal of neurology, neurosurgery, and psychiatry 2002;73(1):93-4.
2002: Christa Bräutigam; Keith Hyland; Ron A Wevers; R Sharma; L Wagner; G-J Stock; F Heitmann; Georg F Hoffmann
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
Neuropediatrics 2002;33(3):113-7.
2002: Mireille van Beekvelt; B G M van Engelen; Ron A Wevers; Willy Colier
In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise.
Clinical physiology and functional imaging 2002;22(3):210-7.
2002: Cornelis J De Ruiter; A M May; B G M van Engelen; Ron A Wevers; G C Steenbergen-Spanjers; Arnold De Haan
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects.
Clinical science (London, England : 1979) 2002;102(5):531-9.
2002: Femke de Loos; Karin M L C Huijben; Nicole C A J van der Kar; Leo A H Monnens; Lambert P van den Heuvel; Johanna E M Groener; Ronald A de Moor; Ron A Wevers
Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalities.
Clinical chemistry 2002;48(5):781-4.
2002: Padraic Grattan-Smith; Ron A Wevers; Gerry C Steenbergen-Spanjers; Victor S C Fung; John Earl; Bridget Wilcken
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):354-9.
2002: Mireille van Beekvelt; B G M van Engelen; Ron A Wevers; Willy Colier
Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption.
Annals of neurology 2002;51(2):272-3.
2001: Sytske H Moolenaar; Udo F H Engelke; N G G M Abeling; H Mandel; M Duran; Ron A Wevers
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine.
Journal of inherited metabolic disease 2001;24(8):843-50.
2001: André B P van Kuilenburg; Henk Van Lenthe; Birgit Assmann; G Göhlich-Ratmann; Georg F Hoffmann; Christa Bräutigam; Ron A Wevers; Albert H van Gennip
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.
Journal of inherited metabolic disease 2001;24(7):725-32.
2001: Sytske H Moolenaar; G Göhlich-Ratmann; Udo F H Engelke; Manfred Spraul; Eberhard Humpfer; Peter Dvortsak; T Voit; Georg F Hoffmann; Christa Bräutigam; André B P van Kuilenburg; Albert H van Gennip; Peter Vreken; Ron A Wevers
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 2001;46(5):1014-7.
2001: Mireille van Beekvelt; Machteld Borghuis; B G M van Engelen; Ron A Wevers; Willy Colier
Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.
Clinical science (London, England : 1979) 2001;101(1):21-8.
2001: PE Jira; Ronald J A Wanders; Jan A M Smeitink; J de Jong; Ron A Wevers; W Oostheim; Joep H A M Tuerlings; Raoul Hennekam; Rob C A Sengers; Hans R Waterham
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
Annals of human genetics 2001;65(Pt 3):229-36.
2001: Sytske H Moolenaar; Marjo S van der Knaap; Udo F H Engelke; Petra J W Pouwels; F S Janssen-Zijlstra; NM Verhoeven; C Jakobs; Ron A Wevers
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.
NMR in biomedicine 2001;14(3):167-76.
2001: Anne-Marie Van Cappellen Van Walsum; Henk Jongsma; Ron A Wevers; Jan G Nijhuis; J Crevels; Udo F H Engelke; Sytske H Moolenaar; Berend Oeseburg; Roel Nijland
Hypoxia in fetal lambs: a study with (1)H-MNR spectroscopy of cerebrospinal fluid.
Pediatric research 2001;49(5):698-704.
2001: BA Binzak; Ron A Wevers; Sytske H Moolenaar; Y M Lee; W L Hwu; J Poggi-Bach; Udo F H Engelke; H M Hoard; J G Vockley; Jerry Vockley
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
American journal of human genetics 2001;68(4):839-47.
2001: Mireille van Beekvelt; Willy Colier; Ron A Wevers; B G M van Engelen
Performance of near-infrared spectroscopy in measuring local O(2) consumption and blood flow in skeletal muscle.
Journal of applied physiology (Bethesda, Md. : 1985) 2001;90(2):511-9.
2001: Griet Van Buggenhout; J M Trijbels; Ron A Wevers; JC Trommelen; Ben C J Hamel; H G Brunner; Jean-Pierre Fryns
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Genetic counseling (Geneva, Switzerland) 2001;12(1):1-21.
2000: JF de Rijk-van Andel; Fons J M Gabreëls; B Geurtz; Gerry C H Steenbergen-Spanjers; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
Neurology 2000;55(12):1926-8.
2000: Frederik Barkhof; Aad Verrips; P Wesseling; Marjo S van der Knaap; B G M van Engelen; Fons J M Gabreëls; A Keyser; Ron A Wevers; Jakob Valk
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
Radiology 2000;217(3):869-76.
2000: Rolf J R J Janssen; Ron A Wevers; Martin Häussler; JA Luyten; Gerry C H Steenbergen-Spanjers; Georg F Hoffmann; Toshiharu Nagatsu; Lambert P van den Heuvel
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.
Annals of human genetics 2000;64(Pt 5):375-82.
2000: Erik A Boss; Sytske H Moolenaar; L F A G Massuger; Henk Boonstra; Udo F H Engelke; Jan G N de Jong; Ron A Wevers
High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid.
NMR in biomedicine 2000;13(5):297-305.
2000: PE Jira; Ron A Wevers; J de Jong; E Rubio-Gozalbo; F S Janssen-Zijlstra; A F van Heyst; Rob C A Sengers; Jan A M Smeitink
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.
Journal of lipid research 2000;41(8):1339-46.
2000: Dieneke Z B van Asselt; Henk J Blom; R Zuiderent; Ron A Wevers; C Jakobs; W J van den Broek; C B Lamers; F H Corstens; Willibrord H L Hoefnagels
Clinical significance of low cobalamin levels in older hospital patients.
The Netherlands journal of medicine 2000;57(2):41-9.
2000: P M M B Soetekouw; Ron A Wevers; P Vreken; Lammy D Elving; Antoon J M Janssen; Y van der Veen; Gijs Bleijenberg; Jos W M van der Meer
Normal carnitine levels in patients with chronic fatigue syndrome.
The Netherlands journal of medicine 2000;57(1):20-4.
2000: N G G M Abeling; Christa Bräutigam; Georg F Hoffmann; Peter G Barth; Ron A Wevers; Jaak Jaeken; Agata Fiumara; Andreas Knust; Albert H van Gennip
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.
Journal of inherited metabolic disease 2000;23(4):325-8.
2000: Christa Bräutigam; Ron A Wevers; Keith Hyland; R K Sharma; Andreas Knust; G F Hoffman
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
Journal of inherited metabolic disease 2000;23(4):321-4.
2000: Stephanie Grünewald; T Imbach; Karin M L C Huijben; M Estela Rubio-Gozalbo; Aad Verrips; J B C de Klerk; Hans Stroink; JF de Rijk-van Andel; Johan L K Van Hove; Udo Wendel; Gert Matthijs; Thierry Hennet; Jaak Jaeken; Ron A Wevers
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
Annals of neurology 2000;47(6):776-81.
2000: T Imbach; Stephanie Grünewald; B Schenk; Patricie Burda; Els Schollen; Ron A Wevers; Jaak Jaeken; J B C de Klerk; Eric G Berger; Gert Matthijs; Markus Aebi; Thierry Hennet
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Human genetics 2000;106(5):538-45.
2000: Cornelis J De Ruiter; B G Van EDE HAANngelen; Ron A Wevers; Arnold De Haan
Muscle function during fatigue in myoadenylate deaminase-deficient Dutch subjects.
Clinical science (London, England : 1979) 2000;98(5):579-85.
2000: Aad Verrips; Lies Hoefsloot; G C H Steenbergen; J P Theelen; Ron A Wevers; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Brain : a journal of neurology 2000;123 ( Pt 5)():908-19.
2000: Aad Verrips; B G M van Engelen; Ron A Wevers; B M van Geel; J R Cruysberg; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.
Archives of neurology 2000;57(4):520-4.
2000: Carlo Dionisi Vici; Georg F Hoffmann; Vincenzo Leuzzi; H Hoffken; Christa Bräutigam; C Rizzo; G C Steebergen-Spanjers; Jan A M Smeitink; Ron A Wevers
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.
The Journal of pediatrics 2000;136(4):560-2.
1999: Marjo S van der Knaap; Ron A Wevers; E A Struys; NM Verhoeven; Petra J W Pouwels; Udo F H Engelke; W Feikema; Jakob Valk; C Jakobs
Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
Annals of neurology 1999;46(6):925-8.
1999: Christa Bräutigam; Gerry C H Steenbergen-Spanjers; Georg F Hoffmann; Carlo Dionisi Vici; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
Clinical chemistry 1999;45(12):2073-8.
1999: Peter Vreken; André B P van Kuilenburg; N Hamajima; Rutger Meinsma; Henk Van Lenthe; G Göhlich-Ratmann; Birgit Assmann; Ron A Wevers; Albert H van Gennip
cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase.
Biochimica et biophysica acta 1999;1447(2-3):251-7.
1999: Mireille van Beekvelt; B G M van Engelen; Ron A Wevers; Willy Colier
Quantitative near-infrared spectroscopy discriminates between mitochondrial myopathies and normal muscle.
Annals of neurology 1999;46(4):667-70.
1999: S Grünewald; K Huyben; J G de Jong; Jan A M Smeitink; E Rubio; G H Boers; H S Conradt; U Wendel; Ron A Wevers
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.
Biochimica et biophysica acta 1999;1455(1):54-60.
1999: Aad Verrips; G J Nijeholt; Frederik Barkhof; B G M van Engelen; P Wesseling; JA Luyten; Ron A Wevers; J Stam; J H J Wokke; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Brain : a journal of neurology 1999;122 ( Pt 8)():1589-95.
1999: B J H M Poorthuis; Ron A Wevers; Wim J Kleijer; Johanna E M Groener; Jan G N de Jong; Sonja van Weely; Klary E Niezen-Koning; Otto P van Diggelen
The frequency of lysosomal storage diseases in The Netherlands.
Human genetics 1999;105(1-2):151-6.
1999: T Imbach; Patricie Burda; P Kuhnert; Ron A Wevers; Markus Aebi; Eric G Berger; Thierry Hennet
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(12):6982-7.
1999: Ron A Wevers; JF de Rijk-van Andel; Christa Bräutigam; B Geurtz; Lambert P van den Heuvel; Gerry C H Steenbergen-Spanjers; Jan A M Smeitink; Georg F Hoffmann; Fons J M Gabreëls
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Journal of inherited metabolic disease 1999;22(4):364-73.
1999: N G G M Abeling; Albert H van Gennip; H Blom; Ron A Wevers; Peter Vreken; H L van Tinteren; Henk D Bakker
Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.
Journal of inherited metabolic disease 1999;22(3):240-2.
1999: Ron A Wevers; Udo F H Engelke; Sytske H Moolenaar; Christa Bräutigam; Jan G N de Jong; R Duran; Ronney A De Abreu; Albert H van Gennip
1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.
Clinical chemistry 1999;45(4):539-48.
1999: Sytske H Moolenaar; J Poggi-Bach; Udo F H Engelke; J M Corstiaensen; Arend Heerschap; Jan G N de Jong; BA Binzak; Jerry Vockley; Ron A Wevers
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.
Clinical chemistry 1999;45(4):459-64.
1999: Aad Verrips; Ron A Wevers; B G M van Engelen; A Keyser; B G Wolthers; Frederik Barkhof; A Stalenhoef; R De Graaf; F Janssen-Zijlstra; A Van Spreeken; Fons J M Gabreëls
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.
Metabolism: clinical and experimental 1999;48(2):233-8.
1999: Mireille van Beekvelt; Willy Colier; Ron A Wevers; B G M van Engelen
Quantitative measurement of oxygen consumption and forearm blood flow in patients with mitochondrial myopathies.
Advances in experimental medicine and biology 1999;471():313-9.
1998: Christa Bräutigam; Ron A Wevers; R J Jansen; Jan A M Smeitink; JF de Rijk-van Andel; F J Gabreëls; Georg F Hoffmann
Biochemical hallmarks of tyrosine hydroxylase deficiency.
Clinical chemistry 1998;44(9):1897-904.
1998: Patricie Burda; Lubor Borsig; JF de Rijk-van Andel; Ron A Wevers; Jaak Jaeken; H Carchon; Eric G Berger; Markus Aebi
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
The Journal of clinical investigation 1998;102(4):647-52.
1998: Dieneke Z B van Asselt; L C de Groot; W A van Staveren; Henk J Blom; Ron A Wevers; I Biemond; Willibrord H L Hoefnagels
Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjects.
The American journal of clinical nutrition 1998;68(2):328-34.
1998: Hans R Waterham; Frits A Wijburg; Raoul Hennekam; Peter Vreken; Bwee Tien Poll-The; Lambertus Dorland; Marinus Duran; P E Jira; Jan A M Smeitink; Ron A Wevers; Ronald J A Wanders
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
American journal of human genetics 1998;63(2):329-38.
1998: Harriëtte T F M Verzijl; B G M van Engelen; JA Luyten; G C H Steenbergen; Lambert P van den Heuvel; H J ter Laak; George W Padberg; Ron A Wevers
Genetic characteristics of myoadenylate deaminase deficiency.
Annals of neurology 1998;44(1):140-3.
1998: Lambert P van den Heuvel; B Luiten; Jan A M Smeitink; JF de Rijk-van Andel; K Hyland; Gerry C H Steenbergen-Spanjers; Rolf J R J Janssen; Ron A Wevers
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
Human genetics 1998;102(6):644-6.
1998: Peter Vreken; H Rusch; K Huijben; Ron A Wevers
Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome.
Journal of inherited metabolic disease 1998;21(4):447-8.
1998: B Weber; Jiddeke van de Kamp; Wim J Kleijer; XH Guo; L Blanch; Otto P van Diggelen; Ron A Wevers; B J H M Poorthuis; John J Hopwood
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.
Journal of inherited metabolic disease 1998;21(4):416-22.
1998: Dieneke Z B van Asselt; M H Karlietis; Patrick J P Poels; J G de Jong; Ron A Wevers; Willibrord H L Hoefnagels
Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations.
Acta neurologica Scandinavica 1998;97(6):413-6.
1998: L F A G Massuger; PB Van Vierzen; Udo F H Engelke; Arend Heerschap; Ron A Wevers
1H-magnetic resonance spectroscopy: a new technique to discriminate benign from malignant ovarian tumors.
Cancer 1998;82(9):1726-30.
1998: Jan G N de Jong; johannes aerts; Sonja van Weely; Carla E M Hollak; J van Pelt; L M van Woerkom; Maria L F Liebrand-van Sambeek; Ron A Wevers
Oligosaccharide excretion in adult Gaucher disease.
Journal of inherited metabolic disease 1998;21(1):49-59.
1997: Andreas Schulze; T Hess; Ron A Wevers; Ertan Mayatepek; Peter Bachert; B Marescau; M V Knopp; P P De Deyn; HJ Bremer; Dietz Rating
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
The Journal of pediatrics 1997;131(4):626-31.
1997: Birgit Assmann; Georg F Hoffmann; L Wagner; Christa Bräutigam; H W Seyberth; M Duran; André B P van Kuilenburg; Ron A Wevers; Albert H van Gennip
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?
Journal of inherited metabolic disease 1997;20(5):681-8.
1997: Aad Verrips; Gerry C H Steenbergen-Spanjers; JA Luyten; Ron A Wevers; J H J Wokke; Fons J M Gabreëls; B G Wolthers; Lambert P van den Heuvel
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
Human genetics 1997;100(2):284-6.
1997: Jaak Jaeken; J Artigas; R Barone; A Fiumara; Tom J de Koning; B T Poll-The; JF de Rijk-van Andel; Georg F Hoffmann; Birgit Assmann; Ertan Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; Ron A Wevers; Emile Van Schaftingen
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.
Journal of inherited metabolic disease 1997;20(3):447-9.
1997: Ronald J A Wanders; Gerrit Jan Romeijn; Frits A Wijburg; Raoul Hennekam; J de Jong; Ron A Wevers; Georges Dacremont
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.
Journal of inherited metabolic disease 1997;20(3):432-6.
1997: Ron A Wevers; Udo F H Engelke; Jan J Rotteveel; Arend Heerschap; Jan G N de Jong; N G G M Abeling; Albert H van Gennip; Ronney A De Abreu
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.
Journal of inherited metabolic disease 1997;20(3):345-50.
1997: PE Jira; Ron A Wevers; J de Jong; E Rubio-Gozalbo; Jan A M Smeitink
New treatment strategy for Smith-Lemli-Opitz syndrome.
Lancet 1997;349(9060):1222.
1997: Rolf G Boot; Carla E M Hollak; Marri Verhoek; P Sloof; B J H M Poorthuis; Wim J Kleijer; Ron A Wevers; Marinus H J van Oers; marcel mannens; johannes aerts; Sonja van Weely
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Human mutation 1997;10(5):348-58.
1997: PE Jira; J G de Jong; F S Janssen-Zijlstra; U Wendel; Ron A Wevers
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.
Clinical chemistry 1997;43(1):129-33.
1996: Aad Verrips; Gerry C H Steenbergen-Spanjers; JA Luyten; L P van den Heuvel; A Keyser; Fons J M Gabreëls; Ron A Wevers
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
Human genetics 1996;98(6):735-7.
1996: A F van Heijst; Ron A Wevers; A Tangerman; J R M Cruysberg; Willy O Renier; J J M Tolboom
Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(8):932-6.
1996: J L M Keulemans; Arnold J J Reuser; Marian A Kroos; Rob Willemsen; Monique M P Hermans; Ans M W van den Ouweland; Jan G N de Jong; Ron A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; Otto P van Diggelen
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Journal of medical genetics 1996;33(6):458-64.
1996: AA Benders; Ron A Wevers; J H Veerkamp
Ion transport in human skeletal muscle cells: disturbances in myotonic dystrophy and Brody's disease.
Acta physiologica Scandinavica 1996;156(3):355-67.
1995: J R M Cruysberg; Ron A Wevers; B G M van Engelen; A Pinckers; A van Spreeken; J J M Tolboom
Ocular and systemic manifestations of cerebrotendinous xanthomatosis.
American journal of ophthalmology 1995;120(5):597-604.
1995: JA Luyten; P W Wenink; Gerry C H Steenbergen-Spanjers; Ron A Wevers; H K Ploos van Amstel; J G de Jong; L P van den Heuvel
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
Human genetics 1995;96(3):357-60.
1995: Karel J B Lamers; B G M van Engelen; Fons J M Gabreëls; Otto R Hommes; G F Borm; Ron A Wevers
Cerebrospinal neuron-specific enolase, S-100 and myelin basic protein in neurological disorders.
Acta neurologica Scandinavica 1995;92(3):247-51.
1995: Ron A Wevers; Udo F H Engelke; U Wendel; Jan G N de Jong; Fons J M Gabreëls; Arend Heerschap
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.
Clinical chemistry 1995;41(5):744-51.
1995: A T Hageman; Fons J M Gabreëls; J G de Jong; A A W M Gabreëls-Festen; C J van den Berg; B A van Oost; Ron A Wevers
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
Archives of neurology 1995;52(4):408-13.
1995: Y Guo; W He; A M Boer; Ron A Wevers; A M de Bruijn; Johanna E M Groener; Carla E M Hollak; johannes aerts; H Galjaard; Otto P van Diggelen
Elevated plasma chitotriosidase activity in various lysosomal storage disorders.
Journal of inherited metabolic disease 1995;18(6):717-22.
1995: N G G M Abeling; Albert H van Gennip; Henk D Bakker; Arend Heerschap; Udo F H Engelke; Ron A Wevers
Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine.
Journal of inherited metabolic disease 1995;18(2):182-4.
1994: J de Jong; C van den Berg; H Wijburg; R Willemsen; O van Diggelen; D Schindler; F Hoevenaars; Ron A Wevers
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.
The Journal of pediatrics 1994;125(3):385-91.
1994: AA Benders; J H Veerkamp; Arie Oosterhof; P J Jongen; René J M Bindels; L M Smit; H F Busch; Ron A Wevers
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.
The Journal of clinical investigation 1994;94(2):741-8.
1994: Ron A Wevers; Udo F H Engelke; Arend Heerschap
High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies.
Clinical chemistry 1994;40(7 Pt 1):1245-50.
1994: J G de Jong; W M Heijs; Ron A Wevers
Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue.
Annals of clinical biochemistry 1994;31 ( Pt 3)():267-71.
1993: AA Benders; J A Timmermans; Arie Oosterhof; Henk ter Laak; T H van Kuppevelt; Ron A Wevers; J H Veerkamp
Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients.
The Biochemical journal 1993;293 ( Pt 1)():269-74.
1993: P J Poels; Ron A Wevers; J P Braakhekke; AA Benders; J H Veerkamp; E M Joosten
Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.
Journal of neurology, neurosurgery, and psychiatry 1993;56(7):823-6.
1992: AA Benders; T H van Kuppevelt; Arie Oosterhof; Ron A Wevers; J H Veerkamp
Adenosine triphosphatases during maturation of cultured human skeletal muscle cells and in adult human muscle.
Biochimica et biophysica acta 1992;1112(1):89-98.
1992: Wim J Kleijer; Gerard Geilen; Otto P van Diggelen; Ron A Wevers; Frans J Los
Prenatal analyses in a pregnancy at risk for beta-mannosidosis.
Prenatal diagnosis 1992;12(10):841-3.
1992: B G M van Engelen; Karel J B Lamers; F J Gabreels; Ron A Wevers; W J van Geel; G F Borm
Age-related changes of neuron-specific enolase, S-100 protein, and myelin basic protein concentrations in cerebrospinal fluid.
Clinical chemistry 1992;38(6):813-6.
1992: Ron A Wevers; P J Poels; E M Joosten; G G Steenbergen; AA Benders; J H Veerkamp
Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency.
Journal of inherited metabolic disease 1992;15(3):423-5.
1992: Ron A Wevers; J R M Cruysberg; A F Van Heijst; F S Janssen-Zijlstra; Willy O Renier; B G M van Engelen; J J M Tolboom
Paediatric cerebrotendinous xanthomatosis.
Journal of inherited metabolic disease 1992;15(3):374-6.
1991: J R M Cruysberg; Ron A Wevers; J J M Tolboom
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.
American journal of ophthalmology 1991;112(5):606-7.
1991: W H J P Linssen; Fons J M Gabreëls; Ron A Wevers
Infective acute transverse myelopathy. Report of two cases.
Neuropediatrics 1991;22(2):107-9.
1991: J G de Jong; J J Hasselman; A A van Landeghem; H L Vader; Ron A Wevers
The spot test is not a reliable screening procedure for mucopolysaccharidoses.
Clinical chemistry 1991;37(4):572-5.
1991: A E Jacobs; AA Benders; Arie Oosterhof; J H Veerkamp; Ron A Wevers; E G Joosten
Effect of various agents on the cytoplasmic calcium concentration in cultured human muscle cells.
The International journal of biochemistry 1991;23(1):93-9.
1990: A E Jacobs; AA Benders; Arie Oosterhof; J H Veerkamp; P van Mier; Ron A Wevers; E M Joosten
The calcium homeostasis and the membrane potential of cultured muscle cells from patients with myotonic dystrophy.
Biochimica et biophysica acta 1990;1096(1):14-9.
1990: Ron A Wevers; M G Joosten; J B van de Biezenbos; G M Theewes; J H Veerkamp
Excessive plasma K+ increase after ischemic exercise in myotonic muscular dystrophy.
Muscle & nerve 1990;13(1):27-32.
1989: Jan G N de Jong; Ron A Wevers; C Laarakkers; B J H M Poorthuis
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.
Clinical chemistry 1989;35(7):1472-7.
1988: Ron A Wevers; A W Theunisse; G Rijksen
An immunobioluminescence assay for gamma-gamma enolase activity in human serum and cerebrospinal fluid.
Clinica chimica acta; international journal of clinical chemistry 1988;178(2):141-50.
1988: W H J P Linssen; T J Fiselier; Fons J M Gabreëls; Ron A Wevers; M P Cuppen; J J Rotteveel
Acute transverse myelopathy as the initial manifestation of probable systemic lupus erythematosus in a child.
Neuropediatrics 1988;19(4):212-5.
1988: Karel J B Lamers; Bernard Uitdehaag; Otto R Hommes; W Doesburg; Ron A Wevers; W J von Geel
The short-term effect of an immunosuppressive treatment on CSF myelin basic protein in chronic progressive multiple sclerosis.
Journal of neurology, neurosurgery, and psychiatry 1988;51(10):1334-7.
1988: S P Sinkeler; E M Joosten; Ron A Wevers; T L Oei; A E Jacobs; J H Veerkamp; B C Hamel
Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families.
Muscle & nerve 1988;11(4):312-7.
1987: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; A C Romsom; Wim A J G Lemmens; Ron A Wevers; Willy O Renier
CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting.
Clinica chimica acta; international journal of clinical chemistry 1987;167(2):135-45.
1987: S P Sinkeler; RA Binkhorst; E M Joosten; Ron A Wevers; M M Coerwinkei; T L Oei
AMP deaminase deficiency: study of the human skeletal muscle purine metabolism during ischaemic isometric exercise.
Clinical science (London, England : 1979) 1987;72(4):475-82.
1986: J P Braakhekke; M I de Bruin; Dick F Stegeman; Ron A Wevers; R A Binkhorst; E M Joosten
The second wind phenomenon in McArdle's disease.
Brain : a journal of neurology 1986;109 ( Pt 6)():1087-101.
1986: S P Sinkeler; Ron A Wevers; E M Joosten; RA Binkhorst; L T Oei; M A Van't Hof; A F De Haan
Improvement of screening in exertional myalgia with a standardized ischemic forearm test.
Muscle & nerve 1986;9(8):731-7.
1986: S P Sinkeler; E M Joosten; Ron A Wevers; RA Binkhorst; F T Oerlemans; C A van Bennekom; M M Coerwinkel; T L Oei
Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine.
Clinical science (London, England : 1979) 1986;70(4):399-401.
1985: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; Wim A J G Lemmens; A C Romsom; Ron A Wevers; Willy O Renier
The concentration of blood components related to fuel metabolism during prolonged fasting in children.
Clinica chimica acta; international journal of clinical chemistry 1985;152(1-2):155-63.
1985: S P Sinkeler; H A Daanen; Ron A Wevers; T L Oei; E M Joosten; RA Binkhorst
The relation between blood lactate and ammonia in ischemic handgrip exercise.
Muscle & nerve 1985;8(6):523-7.
1985: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; A C Romsom; Willy O Renier; Ron A Wevers; Wim A J G Lemmens
Reference values of blood components related to fuel metabolism in children after an overnight fast.
Clinica chimica acta; international journal of clinical chemistry 1985;145(1):17-26.