Frits A Wijburg

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. pmc Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
    Eveline J Langereis
    Department of Pediatrics and Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, H7 270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 8:155. 2013
  2. pmc Disease and patient characteristics in NP-C patients: findings from an international disease registry
    Marc C Patterson
    Mayo Clinic, Rochester, MN, USA
    Orphanet J Rare Dis 8:12. 2013
  3. pmc Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
    Frits A Wijburg
    Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands
    Acta Paediatr 102:462-70. 2013
  4. doi request reprint Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
    F A Wijburg
    Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 78:1560-7. 2012
  5. pmc Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:43. 2011
  6. pmc Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:759-67. 2010
  7. pmc A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency
    Hidde H Huidekoper
    Department of Pediatrics Academic Medical Center, University Hospital of Amsterdam, The Netherlands
    J Inherit Metab Dis 33:25-31. 2010
  8. doi request reprint Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Ann Neurol 68:876-87. 2010
  9. ncbi request reprint Fatty acid oxidation in the human fetus: implications for fetal and adult disease
    Nadia A Oey
    Department of Pediatrics, G8 205, Emma Children s Hospital AMC, Academic Medical Centre, PO Box 22660, NL 1100 DD, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:71-5. 2006
  10. doi request reprint Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 67:304-8. 2010

Collaborators

Detail Information

Publications50

  1. pmc Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
    Eveline J Langereis
    Department of Pediatrics and Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, H7 270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 8:155. 2013
    ..Therefore, an international Delphi consensus procedure was initiated to construct consensus-based clinical practice guidelines in the absence of available evidence...
  2. pmc Disease and patient characteristics in NP-C patients: findings from an international disease registry
    Marc C Patterson
    Mayo Clinic, Rochester, MN, USA
    Orphanet J Rare Dis 8:12. 2013
    ..We report data recorded at enrolment in an ongoing international NP-C registry initiated in September 2009 to describe disease natural history, clinical course and treatment experience of NP-C patients in clinical practice settings...
  3. pmc Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
    Frits A Wijburg
    Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands
    Acta Paediatr 102:462-70. 2013
    ..Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments...
  4. doi request reprint Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
    F A Wijburg
    Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 78:1560-7. 2012
    ..We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C...
  5. pmc Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:43. 2011
    ..However, no large scale studies on cognitive levels in MPS III patients, using formal psychometric tests, have been reported...
  6. pmc Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:759-67. 2010
    ..MPS IIIB must be considered in patients with a developmental delay, even in the absence of a progressive decline in intellectual abilities. A key feature, necessitating metabolic studies, is the coexistence of behavioral problems...
  7. pmc A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency
    Hidde H Huidekoper
    Department of Pediatrics Academic Medical Center, University Hospital of Amsterdam, The Netherlands
    J Inherit Metab Dis 33:25-31. 2010
    ..To study the role of extrahepatic tissue in glucose homeostasis during fasting glucose kinetics were studied in two patients with a deficient hepatic and renal glycogenolysis and/or gluconeogenesis...
  8. doi request reprint Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations
    Marlies J Valstar
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Ann Neurol 68:876-87. 2010
    ..Information on the natural course of MPS IIIA is scarce, but is much needed in view of emerging therapies...
  9. ncbi request reprint Fatty acid oxidation in the human fetus: implications for fetal and adult disease
    Nadia A Oey
    Department of Pediatrics, G8 205, Emma Children s Hospital AMC, Academic Medical Centre, PO Box 22660, NL 1100 DD, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:71-5. 2006
    ..Finally, there are indications that regulation of activity of FAO during fetal development might not only be important for fetal life but may also have implications for health and disease in adulthood...
  10. doi request reprint Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 67:304-8. 2010
    ..As our study could not demonstrate a clinically relevant effect of riboflavin, general use of riboflavin cannot be recommended...
  11. doi request reprint Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans
    Minke H de Ru
    Department of Pediatrics, Amsterdam Lysosome Centre Sphinx, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 36:247-55. 2013
    ..We studied the concentrations of heparan sulfate and dermatan sulfate derived disaccharides (HS and DS, respectively) in the plasma and urine of seven patients and compared these levels with total urinary GAGs (uGAGs) levels...
  12. doi request reprint Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Pediatr 156:121-7. 2010
    ..To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD)...
  13. doi request reprint Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond
    Maarten R Soeters
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Metabolism 59:1543-50. 2010
    ..Therefore, the observation of low plasma glucose values in this subgroup of patients probably does not warrant extensive metabolic evaluation...
  14. ncbi request reprint Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation
    Malika Chegary
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 222, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 93:403-10. 2008
    ..Therefore, we conclude that in intact cells L-AC inhibits CPT2. Combined with our observation that l-AC does not activate PPAR, we suggest that L-AC is useful to simulate a FAO defect in cells from different origin...
  15. pmc Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:507-11. 2010
    ..More studies are needed to fully establish the relevance of SCADD and solve the question as to whether SCADD is involved in a multifactorial disease or represents a nondisease...
  16. doi request reprint Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
    Jessica de Ruijter
    Department of Pediatrics and Amsterdam Lysosome Centre Sphinx, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 107:705-10. 2012
    ....
  17. pmc Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
    Amber E Ten Hoedt
    Department of Pediatrics H7 270, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:391-8. 2011
    ..The insight that emotional support and loss of friendship influence the HRQoL of the parents enables treating physicians to provide better support for these parents...
  18. pmc Mitochondrial long chain fatty acid beta-oxidation in man and mouse
    Malika Chegary
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1791:806-15. 2009
    ..Our findings open new avenues to employ the existing mouse models to study the pathophysiology of human FAO defects...
  19. ncbi request reprint Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand
    Hidde H Huidekoper
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, P O Box 22660, NL 1100 DD, Amsterdam, The Netherlands
    Eur J Pediatr 167:859-65. 2008
    ..Our results support the hypothesis that KH represents the lower tail of the Gaussian distribution of fasting tolerance in children...
  20. ncbi request reprint Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency
    András N Spaan
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 224, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 86:441-7. 2005
    ..Candidates for mutations in the MFT gene are patients with a clinical suspicion of MADD but without any mutation in the alpha- or beta-subunit of ETF or ETF-DH...
  21. ncbi request reprint Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JAMA 296:943-52. 2006
    ..Screening for SCADD is included in expanded newborn screening programs in most US and Australian states...
  22. pmc Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
    Annet M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:159-64. 2011
    ....
  23. doi request reprint Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening
    Machtelt G Bouwman
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 109:201-7. 2013
    ..These results add considerable nuances to the discussion about NBS programs for FD and should be incorporated into the debate...
  24. pmc "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Center AMC, University of Amsterdam, AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:48. 2011
    ..We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance...
  25. doi request reprint Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life
    Machtelt G Bouwman
    Department of Pediatrics, Academic Medical Center and Amsterdam Lysosome Center, Sphinx, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Mol Genet Metab 104:308-13. 2011
    ..Quality of life was decreased in Fabry males in the domains of physical functioning and bodily pain and of general health perception in females...
  26. doi request reprint Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation
    Josanne Cox-Brinkman
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    Ultrastruct Pathol 34:126-32. 2010
    ..In conclusion, both ERT and HCT are capable of restoring, at least partially, dermal fibroblast morphology in MPS I...
  27. doi request reprint High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study
    Jessica de Ruijter
    Department of Pediatrics, Amsterdam Lysosome Center Sphinx Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 109:49-53. 2013
    ..We conducted radiographic studies in a relatively large group of MPS III patients and detected a high prevalence of osteonecrosis of the femoral head (ONFH)...
  28. pmc Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
    Minke H de Ru
    Department of Paediatrics, Academic Medical Center, University Hospital of Amsterdam H7 270, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:22. 2012
    ..Therefore, a numerical severity scale for classifying different MPS I phenotypes at diagnosis based on clinical signs and symptoms was developed...
  29. doi request reprint Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia
    Hans J Avis
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    J Pediatr 158:458-62. 2011
    ..To investigate whether statin therapy affects coenzyme Q10 (CoQ10) status in children with heterozygous familial hypercholesterolemia (FH)...
  30. ncbi request reprint The use of lipid-lowering drug therapy in children and adolescents
    Hans J Avis
    University of Amsterdam, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Meibergdreef 9, Amsterdam, The Netherlands
    Curr Opin Investig Drugs 10:224-31. 2009
    ..Nevertheless, more studies are needed to confirm the lifelong benefit of lipid-lowering therapy initiated in childhood...
  31. ncbi request reprint Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement
    Margarethe E J den Boer
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    J Pediatr 142:684-9. 2003
    ....
  32. ncbi request reprint dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase
    Nadia A Oey
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 85:121-4. 2005
    ..This finding is well in line with the recent observation that embryos are capable of oxidizing fatty acids and furthermore implies that FAO is essential during early embryonic development when the energy demand is high...
  33. pmc Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests
    Marieke Biegstraaten
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    BMC Neurol 10:38. 2010
    ..The aim of our study was to investigate autonomic symptoms and cardiovascular autonomic function in a large cohort of male and female Fabry patients...
  34. doi request reprint Predicting health-related quality of life of parents of children with inherited metabolic diseases
    Janneke Hatzmann
    Psycho Social Department, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Acta Paediatr 98:1205-10. 2009
    ..The aim of this study was to examine medical, socio-demographic and psychosocial determinants of health-related quality of life (HRQoL) of parents of children with metabolic diseases...
  35. doi request reprint Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening
    Minke H de Ru
    Department of Pediatrics, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 107:501-7. 2012
    ..To improve the ethical discussion about NBS for MPS I, we performed an interview study to explore the experiences of MPS I patients and their parents with the timings of their diagnoses...
  36. ncbi request reprint Long-chain fatty acid oxidation during early human development
    Nadia A Oey
    Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Pediatr Res 57:755-9. 2005
    ..The observed pattern of expression during early human development is well in line with the spectrum of clinical signs and symptoms reported in patients with VLCAD or LCHAD/MTP deficiency...
  37. pmc Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
    Nick Dekker
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    Blood 118:e118-27. 2011
    ..Our findings show that plasma glucosylsphingosine can qualify as a biomarker for type 1 Gaucher disease, but that further investigations are warranted regarding its relationship with clinical manifestations of Gaucher disease...
  38. ncbi request reprint Identification of novel mutations in classical galactosemia
    Annet M Bosch
    Academic Medical Centre, University of Amsterdam, Emma s Children s Hospital, Amsterdam, The Netherlands
    Hum Mutat 25:502. 2005
    ..508-29delT), and a large deletion encompassing at least exons 1-11. Six of these novel mutations were found in patients of Dutch descent: p.R51Q, p.S135W, p.K229N, p.Q252H, p.X380C, and c.410dupT...
  39. doi request reprint 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases
    Machtelt G Bouwman
    Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center F5 166, Amsterdam, The Netherlands
    Arch Dis Child 95:642-4. 2010
    ..These cases illustrate the utility of publicly available internet search engines in diagnosing rare disorders and in addition illustrate the lengthy diagnostic odyssey which is common in these disorders...
  40. pmc High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:165-71. 2011
    ..017 and p = 0.040, respectively). High plasma Phe levels have a direct negative effect on both sustained attention and on mood in adult patients with PKU. A Phe-restricted "diet for life" might be an advisable option for many...
  41. ncbi request reprint Clinical implications of mutation analysis in primary hyperoxaluria type 1
    Christiaan S van Woerden
    Emma Children s Hospital AMC, Amsterdam, The Netherlands
    Kidney Int 66:746-52. 2004
    ..The aim of this study was to determine this association in order to find clues for improvement of patient care...
  42. doi request reprint Genistein in Sanfilippo disease: a randomized controlled crossover trial
    Jessica de Ruijter
    Department of Pediatrics and Amsterdam Lysosome Centre Sphinx, University of Amsterdam, Amsterdam, The Netherlands
    Ann Neurol 71:110-20. 2012
    ..Genistein has been proposed as potential therapy but its efficacy remains uncertain. We aimed to determine the efficacy of genistein in MPS III...
  43. pmc Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
    Eugène F Diekman
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JIMD Rep 7:1-6. 2013
    ..Furthermore, as illustrated by the cases we propose a classification system to discriminate LCHAD, LCKAT and MTP deficiency based on enzymatic analysis...
  44. pmc Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
    Minke H de Ru
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:55. 2011
    ..A European consensus procedure was organized to reach consensus about the use of these two treatment strategies...
  45. ncbi request reprint High incidence of hyperoxaluria in generalized peroxisomal disorders
    Christiaan S van Woerden
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 88:346-50. 2006
    ..ZSD patients should be screened by urinalysis for hyperoxaluria and renal ultrasound for nephrocalcinosis in order to take timely measures to prevent renal insufficiency...
  46. ncbi request reprint Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
    Hidde H Huidekoper
    Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 84:265-72. 2005
    ..Alternatively, suppression of endogenous galactose production by exogenous galactose might be implicated. The aim of this study was to determine if the rate of appearance of galactose is suppressed by exogenous galactose...
  47. pmc Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    Johannes M Aerts
    Amsterdam Lysosome Center, Departments of Medical Biochemistry, Internal Medicine, and Paediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:2812-7. 2008
    ..Our findings suggest that measurement of circulating globotriaosylsphingosine will be useful to monitor Fabry disease and may contribute to a better understanding of the disorder...
  48. ncbi request reprint Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients
    Margarethe E J den Boer
    Department of Pediatrics Academic Medical Center, University of Amsterdam, The Netherlands
    Pediatrics 109:99-104. 2002
    ..To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
  49. ncbi request reprint Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
    Sander M Houten
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Eur J Hum Genet 11:196-200. 2003
    ..Homozygotes for V377I might exhibit a much milder phenotype of MK deficiency or no disease-phenotype at all...
  50. ncbi request reprint Statin treatment in children with familial hypercholesterolemia: the younger, the better
    Jessica Rodenburg
    Academic Medical Centre, Department of Vascular Medicine, University of Amsterdam, The Netherlands
    Circulation 116:664-8. 2007
    ..We also examined safety aspects of statin therapy during this long-term follow-up...