Frits A Wijburg

Frits A Wijburg

UNVERIFIED PROFILE

Are you Frits A Wijburg?   Register this Author

Register author
Frits A Wijburg

Frits A Wijburg

Publications by authors named "Frits A Wijburg"

Are you Frits A Wijburg?   Register this Author

100Publications

3656Reads

36Profile Views

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding.

Pediatr Dev Pathol 2017 Jul-Aug;20(4):269-276. Epub 2017 Feb 6.

4 Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1093526617691708DOI Listing
May 2019

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Mol Genet Metab 2019 05 3;127(1):86-94. Epub 2019 Apr 3.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.03.010DOI Listing
May 2019

Cardiac disease in mucopolysaccharidosis type III.

J Inherit Metab Dis 2019 Mar 22;42(2):276-285. Epub 2019 Jan 22.

Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Pediatric Cardiology, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12015DOI Listing
March 2019

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.

Mol Genet Metab 2019 01 10;126(1):14-22. Epub 2018 Dec 10.

Amsterdam UMC, University of Amsterdam, Psychosocial Department, Emma Children's Hospital, Meibergdreef 9, Amsterdam, Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192183055
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2018.12.004DOI Listing
January 2019

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2019 Jan;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12037DOI Listing
January 2019

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Psychosocial Functioning in Parents of MPS III Patients.

JIMD Rep 2019 7;44:33-41. Epub 2018 Jul 7.

Psychosocial Department, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_119
Publisher Site
http://dx.doi.org/10.1007/8904_2018_119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323010PMC
July 2018

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Rev Endocr Metab Disord 2018 03;19(1):93-106

Dutch Fatty Acid Oxidation Expertise Center, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11154-018-9448-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208583PMC
March 2018

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

Orphanet J Rare Dis 2018 01 8;13(1). Epub 2018 Jan 8.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0733-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759238PMC
January 2018

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Ann Neurol 2017 Nov 26;82(5):686-696. Epub 2017 Oct 26.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx," Academic Medical Center, University of Amsterdam.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.25069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725696PMC
November 2017

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation.

Mol Genet Metab 2017 09 18;122(1-2):86-91. Epub 2017 May 18.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192173015
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2017.05.009DOI Listing
September 2017

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.

Bone 2016 07 19;88:92-100. Epub 2016 Apr 19.

Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands; Department of Pediatrics and Amsterdam Lysosome Centre "Sphinx", Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2016.01.029DOI Listing
July 2016

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

Mol Genet Metab 2016 07 10;118(3):198-205. Epub 2016 May 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.05.006DOI Listing
July 2016

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Eur J Pediatr 2016 Jul 31;175(7):1001-6. Epub 2016 May 31.

Department of Radiology, Amsterdam Medical Center, Room G1-213, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-016-2734-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908155PMC
July 2016

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

PLoS One 2015 25;10(9):e0138622. Epub 2015 Sep 25.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583541PMC
May 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

J Bone Joint Surg Am 2016 Mar;98(5):386-95

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx," Academic Medical Center, Amsterdam, the Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2106/JBJS.O.00601DOI Listing
March 2016

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Genet Med 2015 Dec 2;17(12):989-94. Epub 2015 Apr 2.

Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2015.22DOI Listing
December 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9868-y
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Gonadal steroids, gonadotropins and DHEAS in young adults with familial hypercholesterolemia who had initiated statin therapy in childhood.

Atherosclerosis 2015 Aug 3;241(2):427-32. Epub 2015 Jun 3.

Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2015.05.034DOI Listing
August 2015

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Biol Blood Marrow Transplant 2015 Jun 20;21(6):1106-9. Epub 2015 Feb 20.

Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbmt.2015.02.011DOI Listing
June 2015

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model.

JIMD Rep 2015 9;23:77-83. Epub 2015 Apr 9.

Department of Pediatrics and Amsterdam Lysosome Centre "Sphinx", Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2015_432
Publisher Site
http://dx.doi.org/10.1007/8904_2015_432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484902PMC
June 2015

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

J Inherit Metab Dis 2015 Mar 22;38(2):323-31. Epub 2014 Jul 22.

Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9737-0DOI Listing
March 2015

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.

JIMD Rep 2015 26;18:63-8. Epub 2014 Sep 26.

Division of Metabolic Diseases (H7-270), Department of Pediatrics and Amsterdam Lysosome Center "Sphinx", Academic Medical Center (AMC), University of Amsterdam, ZIP code 22660, 1100 DD, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361923PMC
March 2015

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Best Pract Res Clin Endocrinol Metab 2015 Mar 26;29(2):145-57. Epub 2014 Aug 26.

Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.beem.2014.08.004DOI Listing
March 2015

Endogenous glucose production from infancy to adulthood: a non-linear regression model.

Arch Dis Child 2014 Dec 4;99(12):1098-102. Epub 2014 Jul 4.

Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/archdischild-2013-305718DOI Listing
December 2014

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

JIMD Rep 2014 16;17:83-90. Epub 2014 Sep 16.

Department of Internal Medicine, Division Endocrinology and Metabolism, Amsterdam lysosome centre 'Sphinx', Academic Medical Center, University of Amsterdam, Room F5-166, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241201PMC
November 2014

Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.

J Inherit Metab Dis 2014 Sep 4;37(5):813-21. Epub 2014 Apr 4.

Department of Pediatrics and Amsterdam Lysosome Centre "Sphinx", Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9703-xDOI Listing
September 2014

Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia.

JAMA 2014 Sep;312(10):1055-7

Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2014.8892DOI Listing
September 2014

Treatment of lysosomal storage disorders: successes and challenges.

J Inherit Metab Dis 2014 Jul 13;37(4):587-98. Epub 2014 May 13.

Department of Internal Medicine, Division of Endocrinology and Metabolism, SPHINX, Amsterdam Lysosome Center, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9718-3DOI Listing
July 2014

Muscle MRI in patients with long-chain fatty acid oxidation disorders.

J Inherit Metab Dis 2014 May 5;37(3):405-13. Epub 2013 Dec 5.

Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, UMC Utrecht, KC 03.063.0, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-013-9666-3DOI Listing
May 2014

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

Mol Genet Metab 2013 Jun 21;109(2):201-7. Epub 2013 Mar 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.03.008DOI Listing
June 2013

High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study.

Mol Genet Metab 2013 May 16;109(1):49-53. Epub 2013 Mar 16.

Department of Pediatrics, Amsterdam Lysosome Center Sphinx Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.03.004DOI Listing
May 2013

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

Mol Genet Metab 2012 Dec 28;107(4):705-10. Epub 2012 Sep 28.

Department of Pediatrics and Amsterdam Lysosome Centre Sphinx, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192120036
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2012.09.024DOI Listing
December 2012

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.

Mol Genet Metab 2012 Nov 16;107(3):501-7. Epub 2012 Aug 16.

Department of Pediatrics, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.08.008DOI Listing
November 2012

Prevalence of symptoms in female Fabry disease patients: a case-control survey.

J Inherit Metab Dis 2012 Sep 20;35(5):891-8. Epub 2012 Mar 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9447-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432199PMC
September 2012

Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program.

J Pediatr 2012 Jul 28;161(1):99-103. Epub 2012 Jan 28.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2011.12.037DOI Listing
July 2012

Drug therapy of hypercholesterolaemia in children and adolescents.

Drugs 2012 Apr;72(6):759-72

Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.2165/11632810-000000000-00000
Publisher Site
http://dx.doi.org/10.2165/11632810-000000000-00000DOI Listing
April 2012

Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.

J Inherit Metab Dis 2012 Mar 24;35(2):287-300. Epub 2011 Aug 24.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-011-9379-4DOI Listing
March 2012

Statin use during pregnancy: a systematic review and meta-analysis.

Expert Rev Cardiovasc Ther 2012 Mar;10(3):363-78

Department of Vascular Medicine of the Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/erc.11.196DOI Listing
March 2012

Clinical utility gene card for: mucopolysaccharidosis type II.

Eur J Hum Genet 2012 Jan 24;20(1). Epub 2011 Aug 24.

Center for Child and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234511PMC
January 2012

Genistein in Sanfilippo disease: a randomized controlled crossover trial.

Ann Neurol 2012 Jan;71(1):110-20

Department of Pediatrics and Amsterdam Lysosome Centre Sphinx, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.22643DOI Listing
January 2012

Therapy for the mucopolysaccharidoses.

Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v49-59

Reference Centre for Inherited Metabolic Diseases, Necker-Enfants/Malades Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/ker396DOI Listing
December 2011

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.

Mol Genet Metab 2011 Nov 13;104(3):308-13. Epub 2011 Jul 13.

Department of Pediatrics, Academic Medical Center and Amsterdam Lysosome Center, Sphinx, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.07.006DOI Listing
November 2011

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).

Orphanet J Rare Dis 2011 Jun 20;6:43. Epub 2011 Jun 20.

Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-6-43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130633PMC
June 2011

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.

Orphanet J Rare Dis 2011 Jun 27;6:48. Epub 2011 Jun 27.

Department of Pediatrics, Academic Medical Center (AMC), University of Amsterdam, AZ Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-6-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133536PMC
June 2011

Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I.

Pediatrics 2011 May 4;127(5):e1343-6. Epub 2011 Apr 4.

Department of Pediatrics, Catharina Hospital, Eindhoven, Michelangelolaan 2, 5623 EJ Eindhoven, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2009-2047DOI Listing
May 2011

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

J Inherit Metab Dis 2011 Apr 3;34(2):391-8. Epub 2011 Feb 3.

Department of Pediatrics (H7-270), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9267-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063540PMC
April 2011

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

J Inherit Metab Dis 2010 Dec 18;33(6):759-67. Epub 2010 Sep 18.

Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9199-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992652PMC
December 2010

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Ann Neurol 2010 Dec;68(6):876-87

Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.22092
Publisher Site
http://dx.doi.org/10.1002/ana.22092DOI Listing
December 2010

Extended metabolic evaluation of suspected symptomatic hypoglycemia: the prolonged fast and beyond.

Metabolism 2010 Nov 1;59(11):1543-50. Epub 2010 Mar 1.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.metabol.2010.01.024DOI Listing
November 2010

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2010 Oct 29;33(5):507-11. Epub 2010 Apr 29.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9080-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946545PMC
October 2010

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases.

Arch Dis Child 2010 Aug 23;95(8):642-4. Epub 2010 Apr 23.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center (F5-166), Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/adc.2009.171827DOI Listing
August 2010

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

J Inherit Metab Dis 2010 Feb 2;33(1):25-31. Epub 2010 Feb 2.

Department of Pediatrics Academic Medical Center, University Hospital of Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-009-9030-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828550PMC
February 2010