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B J H M Poorthuis

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E J Langereis; D J J Halley; B J H M Poorthuis; I E T van den Berg; F M Vaz; J H J Wokke; Gabor E Linthorst
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.
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.
Saskia M Rombach; Bas van den Bogaard; Bert-Jan H van den Born; Eric de Groot; Johanna E M Groener; Carla E M Hollak; Gabor E Linthorst; B J H M Poorthuis; Johannes M F G Aerts
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.

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All Publications

2013: E J Langereis; D J J Halley; B J H M Poorthuis; I E T van den Berg; F M Vaz; J H J Wokke; Gabor E Linthorst
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.
JIMD reports 2013;9():117-20.
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: Saskia M Rombach; Bas van den Bogaard; Bert-Jan H van den Born; Eric de Groot; Johanna E M Groener; Carla E M Hollak; Gabor E Linthorst; B J H M Poorthuis; Johannes M F G Aerts
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.
Hypertension 2012;60(4):998-1005.
2012: Cees Bruggink; André M Deelder; B J H M Poorthuis; Manfred Wuhrer
Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry.
Analytical and bioanalytical chemistry 2012;403(6):1671-83.
2012: Saskia M Rombach; Frits A Wijburg; Mina Mirzaian; B J H M Poorthuis; Johannes M F G Aerts; Wilma Donker-Koopman; Johanna E M Groener; Erik Hendriks; Carla E M Hollak; Sijmen Kuiper; Gabor E Linthorst
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
PloS one 2012;7(10):e47805.
2011: Johannes M F G Aerts; Josanne Cox-Brinkman; Nick Dekker; Henrik Gold; Johanna E M Groener; Carla E M Hollak; Maria Joao Ferraz; Wouter W Kallemeijn; Gertjan Kramer; Gabor E Linthorst; Herman S Overkleeft; B J H M Poorthuis; Saskia M Rombach; Mariëlle J Van Breemen; Gijs A van der Marel; Wouter Wegdam; Martin D Witte; Rolf G Boot
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.
Journal of inherited metabolic disease 2011;34(3):605-19.
2011: Bouwien E Smid; Johannes M F G Aerts; Johanna E M Groener; Carla E M Hollak; Sijmen Kuiper; Mina Mirzaian; Hermen S Overkleeft; B J H M Poorthuis; Saskia M Rombach; Gabor E Linthorst
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients.
Orphanet journal of rare diseases 2011;6():69.
2011: Mariëlle J Van Breemen; Saskia M Rombach; Nick Dekker; B J H M Poorthuis; Gabor E Linthorst; Aeilko H Zwinderman; Frank Breunig; Christoph Wanner; Johannes M Aerts; Carla E M Hollak
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Biochimica et biophysica acta 2011;1812(1):70-6.
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.
2008: Alexandra J J Schrama; Alfred Bernard; B J H M Poorthuis; Aeilko H Zwinderman; Howard M Berger; Frans J Walther
Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia.
European journal of pediatrics 2008;167(11):1305-12.
2008: M J Valstar; Otto P van Diggelen; B J H M Poorthuis; G J G Ruijter; Frits A Wijburg
Sanfilippo syndrome: a mini-review.
Journal of inherited metabolic disease 2008;31(2):240-52.
2008: A J J Schrama; Arnout Jan de Beaufort; B J H M Poorthuis; Howard M Berger; Frans J Walther
Secretory phospholipase A(2) in newborn infants with sepsis.
Journal of perinatology : official journal of the California Perinatal Association 2008;28(4):291-6.
2008: johannes aerts; Johanna E M Groener; Sijmen Kuiper; Wilma E Donker-Koopman; Anneke Strijland; Roelof Ottenhoff; Cindy van Roomen; Mina Mirzaian; Frits A Wijburg; Gabor E Linthorst; Anouk C Vedder; Saskia M Rombach; J Cox-Brinkman; Pentti Somerharju; Rolf G Boot; Carla E M Hollak; Roscoe O Brady; B J H M Poorthuis
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(8):2812-7.
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: Carla E M Hollak; B J H M Poorthuis; F A Wijburg
[Clinical reasoning and decision making in practice. A 9-year-old boy with isolated splenomegaly].
Nederlands tijdschrift voor geneeskunde 2008;152(2):116-7; author reply 117.
2008: Johanna E M Groener; B J H M Poorthuis; Sijmen Kuiper; Carla E M Hollak; johannes aerts
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.
Biochimica et biophysica acta 2008;1781(1-2):72-8.
2007: A Tylki-Szymańska; Barbara Czartoryska; marie T vanier; B J H M Poorthuis; J A E Groener; A Ługowska; Gilles Millat; Anna Maria Vaccaro; Elzbieta Jurkiewicz
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Clinical genetics 2007;72(6):538-42.
2007: Anouk C Vedder; V E A Gerdes; B J H M Poorthuis; Mariette T J Helmond; M D Trip; johannes aerts; Carla E M Hollak
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Journal of inherited metabolic disease 2007;30(6):988.
2007: Simone A J ter Horst; Frans J Walther; B J H M Poorthuis; Pieter S Hiemstra; Gerry T M Wagenaar
Inhaled nitric oxide attenuates pulmonary inflammation and fibrin deposition and prolongs survival in neonatal hyperoxic lung injury.
American journal of physiology. Lung cellular and molecular physiology 2007;293(1):L35-44.
2007: Johanna E M Groener; B J H M Poorthuis; Sijmen Kuiper; Mariette T J Helmond; Carla E M Hollak; johannes aerts
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma.
Clinical chemistry 2007;53(4):742-7.
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: R G M Bredius; L A E M Laan; Arjan C Lankester; B J H M Poorthuis; Maarten J D van Tol; R M Egeler; W F M Arts
Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression.
Bone marrow transplantation 2007;39(5):309-10.
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: G J G Ruijter; P E C Mourad-Baars; E Ristoff; Willem Onkenhout; B J H M Poorthuis
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.
Journal of inherited metabolic disease 2006;29(4):587.
2005: Ramon Martí; Jan J Verschuuren; Alan Buchman; Ikuo Hirano; Saba Tadesse; André B P van Kuilenburg; Albert H van Gennip; B J H M Poorthuis; Michio Hirano
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
Annals of neurology 2005;58(4):649-52.
2005: Carla E M Hollak; Rolf G Boot; B J H M Poorthuis; johannes aerts
[From gene to disease; Gaucher disease].
Nederlands tijdschrift voor geneeskunde 2005;149(39):2163-6.
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.
2004: Jérôme Ausseil; J Concepción Loredo-Osti; Andrei Verner; Corinne Darmond-Zwaig; Irène Maire; B J H M Poorthuis; Otto P van Diggelen; Thomas J Hudson; T Mary Fujiwara; Kenneth Morgan; Alexey V Pshezhetsky
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.
Journal of medical genetics 2004;41(12):941-5.
2004: Simone A J ter Horst; Gerry T M Wagenaar; Eveline de Boer; Margôt van Gastelen; Joost C M Meijers; Bart J Biemond; B J H M Poorthuis; Frans J Walther
Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury.
Journal of applied physiology (Bethesda, Md. : 1985) 2004;97(5):2014-9.
2004: Gerry T M Wagenaar; Simone A J ter Horst; Margôt van Gastelen; Lara M Leijser; Thais Mauad; Pieter A van der Velden; Emile de Heer; Pieter S Hiemstra; B J H M Poorthuis; Frans J Walther
Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress.
Free radical biology & medicine 2004;36(6):782-801.
2003: Arnout Jan de Beaufort; Astrid C Bakker; Maarten J D van Tol; B J H M Poorthuis; Alexandra J Schrama; Howard M Berger
Meconium is a source of pro-inflammatory substances and can induce cytokine production in cultured A549 epithelial cells.
Pediatric research 2003;54(4):491-5.
2002: S Pourjavan; J P Fryns; Johan L K Van Hove; B J H M Poorthuis; I Casteels
Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
Bulletin de la Société belge d'ophtalmologie 2002;(286):19-24.
2001: SM Jansen; Johanna E M Groener; Wilhelmina Bax; B J H M Poorthuis
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
Journal of inherited metabolic disease 2001;24(5):577-86.
2001: Willem Onkenhout; V Venizelos; Hans R Scholte; J B C de Klerk; B J H M Poorthuis
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Journal of inherited metabolic disease 2001;24(3):337-44.
2001: SM Jansen; Johanna E M Groener; Wilhelmina Bax; A Suter; P Saftig; P Somerharju; B J H M Poorthuis
Biosynthesis of phosphatidylcholine from a phosphocholine precursor pool derived from the late endosomal/lysosomal degradation of sphingomyelin.
The Journal of biological chemistry 2001;276(22):18722-7.
2001: A J Schrama; Arnout Jan de Beaufort; Y R Sukul; SM Jansen; B J H M Poorthuis; Howard M Berger
Phospholipase A2 is present in meconium and inhibits the activity of pulmonary surfactant: an in vitro study.
Acta paediatrica (Oslo, Norway : 1992) 2001;90(4):412-6.
1999: Johanna E M Groener; F L de Graaf; B J H M Poorthuis; Humphrey H H Kanhai
Prenatal diagnosis of lysosomal storage diseases using fetal blood.
Prenatal diagnosis 1999;19(10):930-3.
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: Hans R Scholte; R N Van Coster; P C de Jonge; B J H M Poorthuis; J A Jeneson; Brage S Andresen; Niels Gregersen; J B C de Klerk; H F M Busch
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
Neuromuscular disorders : NMD 1999;9(5):313-9.
1999: Brage S Andresen; Simon E Olpin; B J H M Poorthuis; Hans R Scholte; Christine Vianey-Saban; Ronald J A Wanders; Lodewijk IJlst; A Morris; Morteza Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; Lisbeth Dahl Schroeder; Thomas J Corydon; H Lund; Vibeke Winter; Peter Bross; Lars Bolund; Niels Gregersen
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
American journal of human genetics 1999;64(2):479-94.
1999: SM Jansen; Johanna E M Groener; B J H M Poorthuis
Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts.
Biochimica et biophysica acta 1999;1436(3):363-9.
1999: Margreet G E M Ausems; Klara ten Berg; Marian A Kroos; Otto P van Diggelen; R A Wevers; B J H M Poorthuis; Klary E Niezen-Koning; Ans T Van Der Ploeg; Frits A Beemer; Arnold J J Reuser; Lodewijk A Sandkuijl; J H J Wokke
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.
Community genetics 1999;2(2-3):91-6.
1999: B Weber; XH Guo; Wim J Kleijer; Jiddeke van de Kamp; B J H M Poorthuis; John J Hopwood
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
European journal of human genetics : EJHG 1999;7(1):34-44.
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: A Tylki-Szymańska; Barbara Czartoryska; S Bunge; Otto P van Diggelen; Wim J Kleijer; B J H M Poorthuis; Jan G M Huijmans; D Górska
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
Clinical genetics 1998;53(5):369-74.
1998: August Smelt; B J H M Poorthuis; Willem Onkenhout; Hans R Scholte; Brage S Andresen; Sjoerd G van Duinen; Niels Gregersen; Axel R Wintzen
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.
Annals of neurology 1998;43(4):540-4.
1998: PD Maaswinkel-Mooij; B J H M Poorthuis; PM Hoogerbrugge; Oebele F Brouwer; Jaak M Vossen
[Allogeneic bone marrow transplantation in the treatment of (lysosomal) storage diseases].
Nederlands tijdschrift voor geneeskunde 1998;142(4):169-74.
1997: PD Maaswinkel-Mooij; L A E M Laan; Willem Onkenhout; Oebele F Brouwer; J Jaeken; B J H M Poorthuis
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Journal of inherited metabolic disease 1997;20(4):606-7.
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: S Bunge; Wim J Kleijer; Anna Tylki-Szymanska; C Steglich; M Beck; S Tomatsu; S Fukuda; B J H M Poorthuis; Barbara Czartoryska; T Orii; Andreas Gal
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Human mutation 1997;10(3):223-32.
1996: Johanna E M Groener; W Bax; B J H M Poorthuis
Metabolic fate of oleic acid derived from lysosomal degradation of cholesteryl oleate in human fibroblasts.
Journal of lipid research 1996;37(11):2271-9.
1996: P D Maaswinkel-Mooij; C Van den Bogert; Hans R Scholte; Willem Onkenhout; P Brederoo; B J H M Poorthuis
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.
The Journal of pediatrics 1996;128(5 Pt 1):679-83.
1995: Willem Onkenhout; V Venizelos; P F van der Poel; M P van den Heuvel; B J H M Poorthuis
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
Clinical chemistry 1995;41(10):1467-74.
1994: B J H M Poorthuis; A E Romme; Rob Willemsen; G Wagemaker
Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice.
Pediatric research 1994;36(2):187-93.
1993: B J H M Poorthuis; T Jille-Vlcková; Willem Onkenhout
Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.
Clinica chimica acta; international journal of clinical chemistry 1993;216(1-2):53-61.
1993: H P Kremer; A Keyser; Axel R Wintzen; H R Scholte; J G van Hellenberg Hubar; B J H M Poorthuis; W Ruitenbeek
Mitochondrial encephalomyopathy, lactic acidosis and stroke in adults: two cases.
Journal of neurology 1993;240(4):219-22.
1992: P D Maaswinkel-Mooij; W S Kerstjens-Frederikse; J de Koning; A J Kok; B J H M Poorthuis
[Gaucher's disease in childhood: presentation and treatment].
Tijdschrift voor kindergeneeskunde 1992;60(6):231-5.
1992: Jacek Zaremba; Wim J Kleijer; Jan G M Huijmans; B J H M Poorthuis; Elzbieta Fidzianska; I Glogowska
Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.
Journal of medical genetics 1992;29(7):514.
1992: Frits A Wijburg; D S Rosenblatt; Gijs D Vos; J W Oorthuys; L G van't Hek; B J H M Poorthuis; M K Sanders; R B Schutgens
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.
European journal of pediatrics 1992;151(2):127-31.
1992: J H Lindeman; E Houdkamp; Eef G W M Lentjes; B J H M Poorthuis; Howard M Berger
Limited protection against iron-induced lipid peroxidation by cord blood plasma.
Free radical research communications 1992;16(5):285-94.
1991: J D Macfarlane; B J H M Poorthuis; R A Mulivor; A M Caswell
Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred.
Clinica chimica acta; international journal of clinical chemistry 1991;202(3):141-8.
1990: Otto P van Diggelen; H Zhao; Wim J Kleijer; H C Janse; B J H M Poorthuis; J van Pelt; J P Kamerling; H Galjaard
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).
Clinica chimica acta; international journal of clinical chemistry 1990;187(2):131-9.
1989: Willem Onkenhout; P D Maaswinkel-Mooij; B J H M Poorthuis
4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.
European journal of pediatrics 1989;149(3):194-6.
1989: J H Lindeman; D van Zoeren-Grobben; J Schrijver; A J Speek; B J H M Poorthuis; Howard M Berger
The total free radical trapping ability of cord blood plasma in preterm and term babies.
Pediatric research 1989;26(1):20-4.
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.
1989: PM Hoogerbrugge; B J H M Poorthuis; G Wagemaker; D W van Bekkum; Kunihiko Suzuki
Alleviation of neurologic symptoms after bone marrow transplantation in twitcher mice.
Transplantation proceedings 1989;21(1 Pt 3):2980-1.
1988: A Kondo; PM Hoogerbrugge; Kunihiko Suzuki; B J H M Poorthuis; D W Van Bekkum; Kinuko Suzuki
Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation.
Brain research 1988;460(1):178-83.
1988: J D Macfarlane; B J H M Poorthuis; J J van de Kamp; R G Russell; A M Caswell
Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease.
Clinical chemistry 1988;34(9):1937-41.
1988: PM Hoogerbrugge; B J H M Poorthuis; A E Romme; J J van de Kamp; G Wagemaker; D W van Bekkum
Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.
The Journal of clinical investigation 1988;81(6):1790-4.
1988: Kinuko Suzuki; PM Hoogerbrugge; B J H M Poorthuis; D W Bekkum; K Suzuki
The twitcher mouse. Central nervous system pathology after bone marrow transplantation.
Laboratory investigation; a journal of technical methods and pathology 1988;58(3):302-9.
1988: PM Hoogerbrugge; Kinuko Suzuki; K Suzuki; B J H M Poorthuis; T Kobayashi; G Wagemaker; D W van Bekkum
Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation.
Science (New York, N.Y.) 1988;239(4843):1035-8.
1987: P D Maaswinkel-Mooy; B J H M Poorthuis; H H van Gelderen; J J van de Kamp
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
Archives of disease in childhood 1987;62(10):1066-7.
1987: PM Hoogerbrugge; B J H M Poorthuis; A H Mulder; G Wagemaker; L J Dooren; J M Vossen; D W van Bekkum
Correction of lysosomal enzyme deficiency in various organs of beta-glucuronidase-deficient mice by allogeneic bone marrow transplantation.
Transplantation 1987;43(5):609-14.