Research Topics
| Frits A WijburgSummaryAffiliation: Academic Medical Center Country: The Netherlands Publications
| Collaborators
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Detail Information
Publications
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorderFrits A Wijburg
Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands
Acta Paediatr 102:462-70. 2013..CONCLUSION: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III...
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedureMinke 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...- Development of a suspicion index to aid diagnosis of Niemann-Pick disease type CF 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... - 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... - Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeMarlies 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... - A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiencyHidde 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... - Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlationsMarlies 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... 
Fatty acid oxidation in the human fetus: implications for fetal and adult diseaseNadia 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...- Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyBianca 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... - Clinical aspects of short-chain acyl-CoA dehydrogenase deficiencyBianca 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... - Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyondMaarten 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... - Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiencyBianca 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)... - Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidationMalika 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... - Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of lifeAmber 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... - Mitochondrial long chain fatty acid beta-oxidation in man and mouseMalika 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... - Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demandHidde 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... - Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiencyBianca 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... - Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiencyAndrás 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... - 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 treatmentAnnet M Bosch
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
J Inherit Metab Dis 34:159-64. 2011.... - "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trialAmber 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... - Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of lifeMachtelt 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... - Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantationJosanne 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... - Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemiaHans 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)... - Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvementMargarethe E J den Boer
Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
J Pediatr 142:684-9. 2003.... - The use of lipid-lowering drug therapy in children and adolescentsHans 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... - Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function testsMarieke 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... - Predicting health-related quality of life of parents of children with inherited metabolic diseasesJanneke 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... - dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocaseNadia 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... - Genistein in Sanfilippo disease: a randomized controlled crossover trialJessica 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... - Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic responseNick 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... - 'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseasesMachtelt 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... - High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trialAmber 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... - Identification of novel mutations in classical galactosemiaAnnet 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... - Long-chain fatty acid oxidation during early human developmentNadia 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... - Clinical implications of mutation analysis in primary hyperoxaluria type 1Christiaan 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... - Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedureMinke 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... - Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemiaHidde H Huidekoper
Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Mol Genet Metab 84:265-72. 2005..We conclude that the rate of appearance of galactose is not influenced by exogenous galactose, at least under short-term conditions, in patients with classical galactosemia and in control subjects... - Elevated globotriaosylsphingosine is a hallmark of Fabry diseaseJohannes 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... - High incidence of hyperoxaluria in generalized peroxisomal disordersChristiaan 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... - Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patientsMargarethe E J den Boer
Department of Pediatrics Academic Medical Center, University of Amsterdam, The Netherlands
Pediatrics 109:99-104. 2002..Early diagnosis is difficult in the absence of the classical metabolic derangement. Survival can be improved by prompt diagnosis, but morbidity remains alarmingly high despite current therapeutic regimes... - Statin treatment in children with familial hypercholesterolemia: the younger, the betterJessica 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... - Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the NetherlandsSander 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...