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Jaak Jaeken

Research Profile

Disorders

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Glycosylation

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Publications

TOP 3
Jaak Jaeken
Congenital disorders of glycosylation.
R Zeevaert; F de Zegher; Domenico Garozzo; Gert Matthijs; M Moens; M Smet; Luisa Sturiale; Jaak Jaeken
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
Sophie Louwette; Luc Régal; Chantal Thys; Chris Van Geet; Gwenny Vandeweeghde; Christine Wittevrongel; Rita De Vos; Elisa Decuyper; Jaak Jaeken; Peter Leemans; Kathleen Freson
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.

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All Publications

2013: Jaak Jaeken
Congenital disorders of glycosylation.
Handbook of clinical neurology 2013;113():1737-43.
2013: R Zeevaert; F de Zegher; Domenico Garozzo; Gert Matthijs; M Moens; M Smet; Luisa Sturiale; Jaak Jaeken
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
JIMD reports 2013;8():145-52.
2013: Sophie Louwette; Luc Régal; Chantal Thys; Chris Van Geet; Gwenny Vandeweeghde; Christine Wittevrongel; Rita De Vos; Elisa Decuyper; Jaak Jaeken; Peter Leemans; Kathleen Freson
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Human molecular genetics 2013;22(1):61-73.
2013: Christophe Goubau; Jaak Jaeken; Elena N Levtchenko; Geert A Martens; Chantal Thys; Chris Van Geet; Gunnar M Buyse; Rita De Vos; Michela Di Michele; Erik Gerlo; Nathalie Goemans; Kathleen Freson
Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(1):55-63.
2013: Pieter-Paul Schauwvlieghe; Jaak Jaeken; Philippe Kestelyn; Ilse Claerhout
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC.
Cornea 2013;32(1):91-4.
2012: M E de la Morena-Barrio; Jaak Jaeken; I Martinez-Martinez; Antonia Miñano; T S Sevivas; Vicente Vicente; Javier Corral
Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.
Journal of thrombosis and haemostasis : JTH 2012;10(12):2625-7.
2012: Jaak Jaeken
MGAT2-CDG (CDG-IIa) and dysmorphism.
American journal of medical genetics. Part A 2012;158A(11):2974-5; author reply 2976.
2012: Luc Régal; Siao-Hann Then; Lore Van Bruwaene; Hilde Van Esch; Christine Van Mol; Cengiz Zeybek; Anne-Marie Dieltjens; I Francois; Jaak Jaeken; Sandra M P Meulemans; Ilyas Okur; Halil Ibrahim Aydin; John W M Creemers
Two novel deletions in hypotonia-cystinuria syndrome.
Molecular genetics and metabolism 2012;107(3):614-6.
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: Jaak Jaeken
Isolated neonatal seizures: adenylosuccinase deficiency is another cause!
Pediatric neurology 2012;47(3):228; author reply 228-9.
2012: François Foulquier; Hudson H Freeze; Nathalie Guffon; Jaak Jaeken; Dominique Legrand; Mustapha Amyere; Willem ANNAERT; Riet Bammens; Neil Buist; David Cheillan; Didier Demaegd; Willy Morelle; Pierre Morsomme; Valérie Race; Claire Rosnoblet; Els Schollen; Emile Van Schaftingen; Miikka Vikkula; Renate Zeevaert; Gert Matthijs
TMEM165 deficiency causes a congenital disorder of glycosylation.
American journal of human genetics 2012;91(1):15-26.
2012: Jaak Jaeken; John Creemers; Luc Régal
Evaluation of the pediatric patient with hypotonia: don't forget the hypotonia-cystinuria syndrome!
Developmental medicine and child neurology 2012;54(3):288.
2012: Nawal Makhseed; Gursev Dhaunsi; Jaak Jaeken
Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report.
Journal of child neurology 2012;27(2):222-4.
2011: Corinne De Laet; Baudouin François; Dietbrandt Carton; Bernard Dan; Jaak Jaeken; Etienne M Sokal; Vanessa Terrones Munoz; Philippe Goyens
Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1.
Developmental medicine and child neurology 2011;53(10):962-4.
2011: Dirk J Lefeber; Eva Morava; Jaak Jaeken
How to find and diagnose a CDG due to defective N-glycosylation.
Journal of inherited metabolic disease 2011;34(4):849-52.
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: Jaak Jaeken
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Journal of inherited metabolic disease 2011;34(4):853-8.
2011: Kurt Boonen; Luc Régal; Jaak Jaeken; John W M Creemers
PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.
CNS & neurological disorders drug targets 2011;10(3):355-60.
2011: Cynthia S Gubbels; Chris M G Thomas; Will K W H Wodzig; André J Olthaar; Jaak Jaeken; Fred C G J Sweep; M Estela Rubio-Gozalbo
FSH isoform pattern in classic galactosemia.
Journal of inherited metabolic disease 2011;34(2):387-90.
2010: Jaak Jaeken
Congenital disorders of glycosylation.
Annals of the New York Academy of Sciences 2010;1214():190-8.
2010: Peter Witters; Jacques Pirenne; Raymond Aerts; Diethard Monbaliu; Frederik Nevens; Chris Verslype; Wim Laleman; Tania Roskams; Lars Desmet; Dirk Vlasselaers; Paul Mariën; Ilse Hoffman; Rita Lombaerts; Eveline Goethals; Jaak Jaeken; Wouter Meersseman; David Cassiman
Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis.
Journal of inherited metabolic disease 2010;33(4):451.
2010: L Noé; M Di Michele; E Giets; Chantal Thys; Christine Wittevrongel; Rita De Vos; Lut Overbergh; E Waelkens; Jaak Jaeken; C Van Geet; Kathleen Freson
Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.
Journal of thrombosis and haemostasis : JTH 2010;8(7):1594-603.
2010: David Harvey; Jaak Jaeken; Mike Butler; Alison J Armitage; Pauline M Rudd; Raymond A Dwek
Fragmentation of negative ions from N-linked carbohydrates, part 4. Fragmentation of complex glycans lacking substitution on the 6-antenna.
Journal of mass spectrometry : JMS 2010;45(5):528-35.
2010: Bulent Kurt; Jaak Jaeken; Johan Van Hove; Lieven Lagae; Ann Löfgren; David B Everman; Parul Jayakar; Ali Naini; Klaas Jan Wierenga; Gert Van Goethem; William C Copeland; Salvatore DiMauro
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Archives of neurology 2010;67(2):239-44.
2010: Mohammed Al-Owain; Sarar Mohamed; Namik Kaya; Ahmad Zagal; Gert Matthijs; Jaak Jaeken
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
Orphanet journal of rare diseases 2010;5():7.
2010: Fabienne Parente; Nicholas Ah Mew; Jaak Jaeken; Brian M Gilfix
A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).
Clinica chimica acta; international journal of clinical chemistry 2010;411(1-2):64-6.
2009: Jaak Jaeken; Gert Matthijs; L Régal; W Vleugels; François Foulquier; Nathalie Goemans; M A Haeuptle; Thierry Hennet; C Corchia; Carlo Dionisi Vici
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Journal of inherited metabolic disease 2009;32 Suppl 1():S335-8.
2009: Wendy Vleugels; Micha A Haeuptle; Bobby G Ng; Jean-Claude Michalski; Roberta Battini; Carlo Dionisi Vici; Mark D Ludman; Jaak Jaeken; François Foulquier; Hudson H Freeze; Gert Matthijs; Thierry Hennet
RFT1 deficiency in three novel CDG patients.
Human mutation 2009;30(10):1428-34.
2009: Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
CDG nomenclature: time for a change!
Biochimica et biophysica acta 2009;1792(9):825-6.
2009: Jaak Jaeken; Gert Matthijs
From glycosylation to glycosylation diseases.
Biochimica et biophysica acta 2009;1792(9):823.
2009: Renate Zeevaert; François Foulquier; David Cheillan; Isabelle Cloix; Nathalie Guffon; Luisella Sturiale; Domenico Garozzo; Gert Matthijs; Jaak Jaeken
A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
European journal of medical genetics 2009;52(5):303-5.
2009: Paul de Cock; Jaak Jaeken
MGAT2 deficiency (CDG-IIa): the Life of J.
Biochimica et biophysica acta 2009;1792(9):844-6.
2009: Wendy Vleugels; Liesbeth Keldermans; Jaak Jaeken; Terry D Butters; Jean-Claude Michalski; Gert Matthijs; François Foulquier
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.
Glycobiology 2009;19(8):910-7.
2009: Renate Zeevaert; François Foulquier; Boyan Dimitrov; Ellen Reynders; Rita Van Damme-Lombaerts; Emil Simeonov; Willem ANNAERT; Gert Matthijs; Jaak Jaeken
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
Human molecular genetics 2009;18(3):517-24.
2009: Sofie J Huybrechts; Jaak Jaeken; Paul P Van Veldhoven; Renate Zeevaert; Rita De Vos; Philippe Demaerel; Marc Fransen; Ilse Hoffman; Marijke Brams; David Cassiman
Identification of a novel PEX14 mutation in Zellweger syndrome.
BMJ case reports 2009;2009():.
2009: David Cassiman; Renate Zeevaert; Elisabeth Holme; Eli Anne Kvittingen; Jaak Jaeken
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Orphanet journal of rare diseases 2009;4():28.
2008: Jaak Jaeken; T Hennet; H H Freeze; Gert Matthijs
On the nomenclature of congenital disorders of glycosylation (CDG).
Journal of inherited metabolic disease 2008;31(6):669-72.
2008: Kathleen Freson; Benedetta Izzi; Veerle Labarque; Maria van Helvoirt; Chantal Thys; Christine Wittevrongel; Marie Bex; Roger Bouillon; Nathalie Godefroid; Willem Proesmans; Francis de Zegher; Jaak Jaeken; Chris Van Geet
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
The Journal of clinical endocrinology and metabolism 2008;93(12):4851-9.
2008: Kathleen Freson; Benedetta Izzi; Jaak Jaeken; Maria van Helvoirt; Chantal Thys; Christine Wittevrongel; Francis de Zegher; Chris Van Geet
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
The Journal of clinical endocrinology and metabolism 2008;93(12):4844-9.
2008: Andreas Nydegger; Maria Van Dyck; Robert A Fisher; Jaak Jaeken; Winita Hardikar
Hardikar syndrome: long term outcome of a rare genetic disorder.
American journal of medical genetics. Part A 2008;146A(19):2468-72.
2008: Kevin Martens; Jaak Jaeken; Gert Matthijs; John W M Creemers
Multi-system disorder syndromes associated with cystinuria type I.
Current molecular medicine 2008;8(6):544-50.
2008: Luisa Sturiale; Rita Barone; Angelo Palmigiano; Célestin Nsibu Ndosimao; Paz Briones; Maciej Adamowicz; Jaak Jaeken; Domenico Garozzo
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.
Proteomics 2008;8(18):3822-32.
2008: David Cassiman; Jaak Jaeken
NASH may be trash.
Gut 2008;57(2):141-4.
2008: Renate Zeevaert; François Foulquier; Jaak Jaeken; Gert Matthijs
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Molecular genetics and metabolism 2008;93(1):15-21.
2008: Judith A P Bons; Etienne C H J Michielsen; Douwe de Boer; Freek G Bouwman; Jaak Jaeken; Marja Van Dieijen-Visser; M Estela Rubio-Gozalbo; Will K W H Wodzig
A specific immunoprecipitation method for isolating isoforms of insulin-like growth factor binding protein-3 from serum.
Clinica chimica acta; international journal of clinical chemistry 2008;387(1-2):59-65.
2007: Kevin Martens; Inge Heulens; Sandra Meulemans; Marco Zaffanello; David Tilstra; Frederik J Hes; Raoul Rooman; Inge François; Francis de Zegher; Jaak Jaeken; Gert Matthijs; John W M Creemers
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
European journal of human genetics : EJHG 2007;15(10):1029-33.
2007: David Cassiman; Kathleen Claes; Evelyne Lerut; Raymond Oyen; Steven Joniau; Boudewijn Van Damme; Jaak Jaeken
Bilateral renal cell carcinoma development in long-term Fabry disease.
Journal of inherited metabolic disease 2007;30(5):830-1.
2007: Claire E Hart; Valerie Race; Younes Achouri; Elsa Wiame; Mark Sharrard; Simon E Olpin; Jennifer Watkinson; James R Bonham; Jaak Jaeken; Gert Matthijs; Emile Van Schaftingen
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
American journal of human genetics 2007;80(5):931-7.
2007: Rita Barone; Luisa Sturiale; Agata Fiumara; Graziella Uziel; Domenico Garozzo; Jaak Jaeken
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).
Journal of inherited metabolic disease 2007;30(1):107.
2007: Jaak Jaeken; Gert Matthijs
Congenital disorders of glycosylation: a rapidly expanding disease family.
Annual review of genomics and human genetics 2007;8():261-78.
2007: Ann Meulemans; Sara Seneca; Joél Smet; Boel De Paepe; Willy Lissens; Rudy Van Coster; Anne Debeer; Linda De Meirleir; Jaak Jaeken
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(1):17-20.
2007: Peter Kleinert; Thomas Kuster; Daniel Arnold; Jaak Jaeken; Claus W Heizmann; Heinz Troxler
Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis.
Proteomics 2007;7(1):15-22.
2006: Kevin Martens; Rita Derua; Sandra Meulemans; Etienne Waelkens; Jaak Jaeken; Gert Matthijs; John W M Creemers
PREPL: a putative novel oligopeptidase propelled into the limelight.
Biological chemistry 2006;387(7):879-83.
2006: Hubert A Carchon; Célestin Nsibu Ndosimao; Sandra Van Aerschot; Jaak Jaeken
Use of serum on Guthrie cards in screening for congenital disorders of glycosylation.
Clinical chemistry 2006;52(4):774-5.
2006: François Foulquier; Eliza Vasile; Els Schollen; Nico Callewaert; Tim Raemaekers; Dulce Quelhas; Jaak Jaeken; Philippa Mills; Bryan Winchester; Monty Krieger; Willem ANNAERT; Gert Matthijs
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(10):3764-9.
2006: Jaak Jaeken; Kevin Martens; Inge Francois; Francois Eyskens; Claudine Lecointre; Rita Derua; Sandra Meulemans; Jerry W Slootstra; Etienne Waelkens; Francis de Zegher; John W M Creemers; Gert Matthijs
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
American journal of human genetics 2006;78(1):38-51.
2005: Luisa Sturiale; Rita Barone; Agata Fiumara; Marta Perez; Marco Zaffanello; Giovanni Sorge; Lorenzo Pavone; Silvia Tortorelli; John F O'Brien; Jaak Jaeken; Domenico Garozzo
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
Glycobiology 2005;15(12):1268-76.
2005: Kathy Cromphout; Liesbeth Keldermans; An Snellinx; Jean Francois Collet; Stephanie Grünewald; Natalie De Geest; R Sciot; E Vanschaftingen; Jaak Jaeken; Gert Matthijs; Dieter Hartmann
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
The European journal of neuroscience 2005;22(4):991-6.
2005: Johan L K Van Hove; Jaak Jaeken; Marijke Proesmans; Kris De Boeck; Kristin Minner; Gert Matthijs; Eric Verbeken; Anouk Demunter; Marc Boogaerts
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
American journal of medical genetics. Part A 2005;132A(2):152-8.
2005: Maja Di Rocco; Thierry Hennet; Claudia E Grubenmann; S Pagliardini; A E M Allegri; Christian G Frank; Markus Aebi; Silvia Vignola; Jaak Jaeken
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
Journal of inherited metabolic disease 2005;28(6):1162-4.
2005: Johan L K Van Hove; K Vande Kerckhove; J B Hennermann; V Mahieu; P Declercq; S Mertens; M De Becker; Priya S Kishnani; Jaak Jaeken
Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.
Journal of inherited metabolic disease 2005;28(5):651-63.
2004: Jaak Jaeken; Hubert A Carchon
Congenital disorders of glycosylation: a booming chapter of pediatrics.
Current opinion in pediatrics 2004;16(4):434-9.
2004: Maria Veiga-da-Cunha; Jean Francois Collet; Benoît Prieur; Jaak Jaeken; Yves Peeraer; Anja Rabbijns; Emile Van Schaftingen
Mutations responsible for 3-phosphoserine phosphatase deficiency.
European journal of human genetics : EJHG 2004;12(2):163-6.
2004: Jaak Jaeken
Congenital disorders of glycosylation (CDG): update and new developments.
Journal of inherited metabolic disease 2004;27(3):423-6.
2004: Hubert A Carchon; Roland Chevigné; Jean-Bernard Falmagne; Jaak Jaeken
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin.
Clinical chemistry 2004;50(1):101-11.
2003: Peter Kleinert; Thomas Kuster; Silke S Durka; Diana Ballhausen; Nils U Bosshard; Beat Steinmann; Edgar Hänseler; Jaak Jaeken; Claus W Heizmann; Heinz Troxler
Mass spectrometric analysis of human transferrin in different body fluids.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2003;41(12):1580-8.
2003: Michael Butler; Dulce Quelhas; Alison J Critchley; Hubert A Carchon; Holger F Hebestreit; Richard G Hibbert; Laura Vilarinho; Elisa Leão Teles; Gert Matthijs; Els Schollen; Pablo F Argibay; David Harvey; Raymond A Dwek; Jaak Jaeken; Pauline M Rudd
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
Glycobiology 2003;13(9):601-22.
2003: Kathleen Freson; Jaak Jaeken; Monique Van Helvoirt; Francis de Zegher; Christine Wittevrongel; Chantal Thys; Marc F Hoylaerts; Jos Vermylen; Chris Van Geet
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
Human molecular genetics 2003;12(10):1121-30.
2003: Nico Callewaert; Els Schollen; Annelies Vanhecke; Jaak Jaeken; Gert Matthijs; Roland Contreras
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.
Glycobiology 2003;13(5):367-75.
2003: Johan L K Van Hove; Stephanie Grünewald; Jaak Jaeken; Philippe Demaerel; Peter E Declercq; Pierre Bourdoux; Klary Niezen-Koning; John E Deanfeld; James V Leonard
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Lancet 2003;361(9367):1433-5.
2003: Jaak Jaeken; Kathleen Freson; Nathalie M Goemans; Paul P De Cock; Rita M De Vos; Lieven Lagae; Christel A Van Geet
G protein diseases: newly recognized causes of metabolic encephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(5):211-5.
2003: Jaak Jaeken
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
Journal of inherited metabolic disease 2003;26(2-3):99-118.
2002: Jaak Jaeken
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Journal of child neurology 2002;17 Suppl 3():3S84-7; discussion 3S88.
2002: Gregory M Enns; Robert D Steiner; Neil Buist; Charles Cowan; Kathleen A Leppig; Marjorie F McCracken; Vibeke Westphal; Hudson H Freeze; John F O'brien; Jaak Jaeken; Gert Matthijs; Sarina Behera; Louanne Hudgins
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
The Journal of pediatrics 2002;141(5):695-700.
2002: Stephanie Grunewald; Gert Matthijs; Jaak Jaeken
Congenital disorders of glycosylation: a review.
Pediatric research 2002;52(5):618-24.
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.
2001: B Schenk; T Imbach; Christian G Frank; Claudia E Grubenmann; Gerald V Raymond; Haggit Hurvitz; isabelle korn-lubetzki; S Revel-Vik; A Raas-Rotschild; A S Luder; Jaak Jaeken; Eric G Berger; Gert Matthijs; Thierry Hennet; Markus Aebi
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
The Journal of clinical investigation 2001;108(11):1687-95.
2001: Jaak Jaeken; Hubert A Carchon
Congenital disorders of glycosylation: the rapidly growing tip of the iceberg.
Current opinion in neurology 2001;14(6):811-5.
2001: Kathleen Freson; Marc F Hoylaerts; Jaak Jaeken; M Eyssen; Jef Arnout; Jos Vermylen; Chris Van Geet
Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.
Thrombosis and haemostasis 2001;86(3):733-8.
2001: Chris Van Geet; Jaak Jaeken; Kathleen Freson; T Lenaerts; Jef Arnout; Jos Vermylen; Marc F Hoylaerts
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
Journal of inherited metabolic disease 2001;24(4):477-92.
2001: Stephanie Grünewald; Els Schollen; Emile Van Schaftingen; Jaak Jaeken; Gert Matthijs
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
American journal of human genetics 2001;68(2):347-54.
2001: Jaak Jaeken; Gert Matthijs
Congenital disorders of glycosylation.
Annual review of genomics and human genetics 2001;2():129-51.
2001: Jaak Jaeken
Alexander disease and intermediate filaments in astrocytes: a fatal gain of function.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5(4):151-3.
2001: Hubert A Carchon; Jaak Jaeken
Determination of D-mannose in serum by capillary electrophoresis.
Clinical chemistry 2001;47(7):1319-21.
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: 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: L Corbeel; S Van Lierde; Jaak Jaeken
Long-term follow-up of portacaval shunt in glycogen storage disease type 1B.
European journal of pediatrics 2000;159(4):268-72.
2000: Johan L K Van Hove; Priya S Kishnani; Philippe Demaerel; Stephen Kahler; C Miller; Jaak Jaeken; S L Rutledge
Acute hydrocephalus in nonketotic hyperglycemia.
Neurology 2000;54(3):754-6.
2000: Jaak Jaeken; Hubert A Carchon
What's new in congenital disorders of glycosylation?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(4):163-7.
2000: T Imbach; B Schenk; Els Schollen; Patricie Burda; A Stutz; S Grunewald; N M Bailie; M D King; Jaak Jaeken; Gert Matthijs; Eric G Berger; Markus Aebi; Thierry Hennet
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
The Journal of clinical investigation 2000;105(2):233-9.
1999: Hubert A Carchon; Emile Van Schaftingen; Gert Matthijs; Jaak Jaeken
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
Biochimica et biophysica acta 1999;1455(2-3):155-65.
1999: M Pirard; Gert Matthijs; L Heykants; Els Schollen; Stephanie Grünewald; Jaak Jaeken; Emile Van Schaftingen
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
FEBS letters 1999;452(3):319-22.
1999: Rita Barone; Lorenzo Pavone; Agata Fiumara; Rio Bianchini; Jaak Jaeken
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).
Brain & development 1999;21(4):260-3.
1999: T Lukusa; koenraad devriendt; Jaak Jaeken; Jean-Pierre Fryns
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.
Clinical dysmorphology 1999;8(1):47-51.
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: Jaak Jaeken; Gert Matthijs; J M Saudubray; Carlo Dionisi Vici; E Bertini; P de Lonlay; H Henri; Hubert A Carchon; Els Schollen; Emile Van Schaftingen
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
American journal of human genetics 1998;62(6):1535-9.
1998: Rita Barone; H Carchon; E Jansen; Lorenzo Pavone; Agata Fiumara; Nils U Bosshard; Richard Gitzelmann; Jaak Jaeken
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).
Journal of inherited metabolic disease 1998;21(2):167-72.
1998: Gert Matthijs; Els Schollen; Jean-Jacques Cassiman; V Cormier-Daire; Jaak Jaeken; Emile Van Schaftingen
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
European journal of human genetics : EJHG 1998;6(2):99-104.
1998: Gert Matthijs; Els Schollen; Emile Van Schaftingen; Jean-Jacques Cassiman; Jaak Jaeken
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
American journal of human genetics 1998;62(3):542-50.
1998: Willem Proesmans; J Decoster; Luc Breysem; Jaak Jaeken
3-year-old girl with rickets and hepatomegaly.
European journal of pediatrics 1998;157(1):83-4.
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: Jaak Jaeken; Michel detheux; J P Fryns; Jean Francois Collet; P Alliet; E Van Schaftingen
Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
Journal of medical genetics 1997;34(7):594-6.
1997: Gert Matthijs; Els Schollen; E Pardon; Maria Veiga-da-Cunha; Jaak Jaeken; Jean-Jacques Cassiman; Emile Van Schaftingen
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Nature genetics 1997;16(1):88-92.
1997: Jaak Jaeken; PJ Casaer
Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1997;1(2-3):61-6.
1997: Jaak Jaeken; Gert Matthijs; R Barone; H Carchon
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Journal of medical genetics 1997;34(1):73-6.
1996: Jaak Jaeken; M Pirard; M Adamowicz; E Pronicka; Emile Van Schaftingen
Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.
Pediatric research 1996;40(5):764-6.
1996: Lorenzo Pavone; Agata Fiumara; Rita Barone; R Rizzo; P Buttitta; W B Dobyns; Jaak Jaeken
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Journal of neurology 1996;243(10):700-5.
1996: Agata Fiumara; Rita Barone; P Buttitta; R Musso; Lorenzo Pavone; Francesco Nigro; Jaak Jaeken
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.
Thrombosis and haemostasis 1996;76(4):502-4.
1996: Gert Matthijs; Eric Legius; Els Schollen; P Vandenberk; Jaak Jaeken; R Barone; A Fiumara; G Visser; M Lambert; Jean-Jacques Cassiman
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).
Genomics 1996;35(3):597-9.
1996: Jaak Jaeken; Michel detheux; L Van Maldergem; M Foulon; Hubert A Carchon; Emile Van Schaftingen
3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Archives of disease in childhood 1996;74(6):542-5.
1996: Jaak Jaeken; N Goemans; J P Fryns; I François; F de Zegher
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.
Journal of inherited metabolic disease 1996;19(3):275-7.
1996: Jaak Jaeken; Michel detheux; L Van Maldergem; J P Frijns; P Alliet; M Foulon; Hubert A Carchon; Emile Van Schaftingen
3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.
Journal of inherited metabolic disease 1996;19(2):223-6.
1995: Francis de Zegher; Jaak Jaeken
Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence.
Pediatric research 1995;37(4 Pt 1):395-401.
1994: Agata Fiumara; Rita Barone; P Buttitta; M Di Pietro; A Scuderi; Francesco Nigro; Jaak Jaeken
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
The British journal of ophthalmology 1994;78(11):845-6.
1994: Jaak Jaeken; H Schachter; Hubert A Carchon; P De Cock; Bernadette Coddeville; G Spik
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
Archives of disease in childhood 1994;71(2):123-7.
1994: Jaak Jaeken
Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis.
European journal of pediatrics 1994;153(7 Suppl 1):S86-9.
1994: G Van den Berghe; F Van den Bergh; M F Vincent; Jaak Jaeken
Adenylosuccinate lyase deficiency: an update.
Advances in experimental medicine and biology 1994;370():363-6.
1993: Jaak Jaeken; Hubert A Carchon; H Stibler
The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?
Glycobiology 1993;3(5):423-8.
1993: Chris Van Geet; Jaak Jaeken
A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.
Pediatric research 1993;33(5):540-1.
1993: P G Barth; G F Hoffmann; Jaak Jaeken; R J Wanders; Marinus Duran; Gerbert Jansen; C Jakobs; W Lehnert; F Hanefeld; J Valk
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.
Journal of inherited metabolic disease 1993;16(4):753-61.
1993: F Van den Bergh; M F Vincent; Jaak Jaeken; G Van den Berghe
Functional studies in fibroblasts of adenylosuccinase-deficient children.
Journal of inherited metabolic disease 1993;16(2):425-34.
1993: F Van den Bergh; M F Vincent; Jaak Jaeken; G Van den Berghe
Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.
Journal of inherited metabolic disease 1993;16(2):415-24.
1993: Jaak Jaeken; Hubert A Carchon
The carbohydrate-deficient glycoprotein syndromes: an overview.
Journal of inherited metabolic disease 1993;16(5):813-20.
1993: Jaak Jaeken; P De Cock; H Stibler; Chris Van Geet; J Kint; Vincent T Ramaekers; Hubert A Carchon
Carbohydrate-deficient glycoprotein syndrome type II.
Journal of inherited metabolic disease 1993;16(6):1041.
1992: Jaak Jaeken; F Van den Bergh; M F Vincent; P Casaer; G Van den Berghe
Adenylosuccinase deficiency: a newly recognized variant.
Journal of inherited metabolic disease 1992;15(3):416-8.
1991: Hubert A Carchon; Jaak Jaeken; Erik Jansen; E Eggermont
Reference values for free gamma-aminobutyric acid determined by ion-exchange chromatography and fluorescence detection in the cerebrospinal fluid of children.
Clinica chimica acta; international journal of clinical chemistry 1991;201(1-2):83-8.
1991: F Van den Bergh; M F Vincent; Jaak Jaeken; G Van den Berghe
Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.
Analytical biochemistry 1991;193(2):287-91.
1991: Chris Van Geet; L Vandenbossche; E Eggermont; Hugo Devlieger; Jos Vermylen; Jaak Jaeken
Possible platelet contribution to pathogenesis of transient neonatal hyperammonaemia syndrome.
Lancet 1991;337(8733):73-5.
1991: F Van den Bergh; M F Vincent; Jaak Jaeken; G Van den Berghe
Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
Advances in experimental medicine and biology 1991;309B():277-80.
1991: Vincent T Ramaekers; H Stibler; J Kint; Jaak Jaeken
A new variant of the carbohydrate deficient glycoproteins syndrome.
Journal of inherited metabolic disease 1991;14(3):385-8.
1991: Jaak Jaeken; H Stibler; B Hagberg
The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.
Acta paediatrica Scandinavica. Supplement 1991;375():1-71.
1990: Jaak Jaeken; P Casaer; K D Haegele; P J Schechter
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
Journal of inherited metabolic disease 1990;13(6):793-801.
1988: Jaak Jaeken; S K Wadman; Marinus Duran; F J van Sprang; F A Beemer; R A Holl; P M Theunissen; P de Cock; F van den Bergh; M F Vincent
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
European journal of pediatrics 1988;148(2):126-31.