Publications by authors named "Gepke Visser"

74Publications

Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment.

J Lipid Atheroscler 2020 Sep 22;9(3):313-333. Epub 2020 Sep 22.

Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.12997/jla.2020.9.3.313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521971PMC
September 2020

Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.

Clin Nutr 2020 Sep 4. Epub 2020 Sep 4.

Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, 1105, AZ, Amsterdam, the Netherlands; Section Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2020.08.032DOI Listing
September 2020

Development and validation of a gas chromatography-mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma.

Anal Bioanal Chem 2020 Sep 9;412(23):5789-5797. Epub 2020 Jul 9.

Amsterdam UMC, Stable Isotope Research Laboratory, Endocrinology, Amsterdam Gastroenterology Endocrinology and Metabolism, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00216-020-02801-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413909PMC
September 2020

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Biochim Biophys Acta Mol Basis Dis 2020 06 19;1866(6):165725. Epub 2020 Feb 19.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2020.165725DOI Listing
June 2020

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

JIMD Rep 2019 Jul 28;48(1):11-14. Epub 2019 May 28.

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

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http://dx.doi.org/10.1002/jmd2.12040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606985PMC
July 2019

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

J Inherit Metab Dis 2019 09 17;42(5):878-889. Epub 2019 Jul 17.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12147DOI Listing
September 2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

J Inherit Metab Dis 2019 09 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12102
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http://dx.doi.org/10.1002/jimd.12102DOI Listing
September 2019

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

J Inherit Metab Dis 2019 01;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.

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

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

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

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http://link.springer.com/10.1007/8904_2018_148
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http://dx.doi.org/10.1007/8904_2018_148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336674PMC
December 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.

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

Beneficial Effect of BH Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

JIMD Rep 2018 30;42:99-103. Epub 2018 Jan 30.

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

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http://dx.doi.org/10.1007/8904_2017_86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226397PMC
January 2018

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.

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

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Mol Genet Metab 2017 09 27;122(1-2):67-75. Epub 2017 Jun 27.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.012DOI Listing
September 2017

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Orphanet J Rare Dis 2017 05 25;12(1):101. Epub 2017 May 25.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s13023-017-0654-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445308PMC
May 2017

Ketones and inborn errors of metabolism: old friends revisited.

J Inherit Metab Dis 2017 01;40(1):3-4

Laboratory Genetic Metabolic Diseases, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9997-yDOI Listing
January 2017

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.

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

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

JIMD Rep 2016 27;30:15-22. Epub 2016 Feb 27.

Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110436PMC
February 2016

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes.

Neonatology 2016 24;109(4):297-302. Epub 2016 Feb 24.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1159/000443874DOI Listing
November 2017

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

JIMD Rep 2016 10;27:101-6. Epub 2015 Oct 10.

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

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http://dx.doi.org/10.1007/8904_2015_476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864775PMC
May 2016

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

JIMD Rep 2016 5;25:9-13. Epub 2015 Jul 5.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059187PMC
http://dx.doi.org/10.1007/8904_2015_472DOI Listing
July 2015

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

J Inherit Metab Dis 2016 Jan 25;39(1):47-58. Epub 2015 Jun 25.

INSERM UMR-1124, Université Paris Descartes, Centre Universitaire des Saints Pères, 45 rue des Saints Pères, 75006, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9871-3DOI Listing
January 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.

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

Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature.

Cytogenet Genome Res 2014 10;144(3):155-62. Epub 2014 Dec 10.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1159/000369606DOI Listing
April 2015

Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.

Anal Chim Acta 2015 Jan 31;853:435-441. Epub 2014 Oct 31.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2014.10.043DOI Listing
January 2015

Monocarboxylate transporter 1 deficiency and ketone utilization.

N Engl J Med 2014 Nov;371(20):1900-7

From the Division of Pediatrics, Department of Metabolic Diseases (P.M.H., G.V.), and the Division of Pediatrics, Department of Pediatric Gastroenterology (R.H.J.H.), Wilhelmina Children's Hospital, and the Center for Molecular Medicine, Department of Medical Genetics (G.R.M., M.J.G., K.D., M.H., B.Z., J.J.S., N.M.V.-D., G.H.), University Medical Center Utrecht, Utrecht, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, Amsterdam (S.F., J.P.N.R., M.T., R.J.A.W.), the Division of Pediatrics, Department of Metabolic Diseases, and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht (M.E.R.-G.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen (M.C.V.) - all in the Netherlands; the National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland (A.A.M.); the Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey (I.O.); and the Department of Paediatric Metabolic Medicine, Sheffield Children's Hospital, Sheffield (M.J.S.), the Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London (M.C.), Chemical Pathology, Department of Laboratory Medicine, Salisbury (N.O.), and the Department of Clinical Biochemistry, Southampton General Hospital, Southampton (V.W.) - all in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1407778DOI Listing
November 2014

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

J Inherit Metab Dis 2015 May 11;38(3):477-82. Epub 2014 Oct 11.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9773-9DOI Listing
May 2015

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.

Am J Clin Nutr 2014 Aug 7;100(2):587-92. Epub 2014 May 7.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).

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http://dx.doi.org/10.3945/ajcn.113.082008DOI Listing
August 2014

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Liver transplantation in glycogen storage disease type I.

Orphanet J Rare Dis 2014 Apr 9;9:47. Epub 2014 Apr 9.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-9-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113191PMC
April 2014

Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.

FASEB J 2014 Jul 19;28(7):2891-900. Epub 2014 Mar 19.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, and Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; and Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA

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http://dx.doi.org/10.1096/fj.14-250241DOI Listing
July 2014

[Hereditary fructose intolerance].

Ned Tijdschr Geneeskd 2014 ;158:A6889

UMCU, Utrecht.

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November 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.

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

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

J Pediatr 2014 Feb 14;164(2):398-401. Epub 2013 Nov 14.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.10.001DOI Listing
February 2014

Reliable analysis of phenylalanine and tyrosine in a minimal volume of blood.

Clin Biochem 2013 Sep 29;46(13-14):1272-5. Epub 2013 May 29.

Section Metabolic Diagnostics, Department of Medical Genetics, University Medical Center Utrecht, KC.02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.clinbiochem.2013.05.054DOI Listing
September 2013

Differences between acylcarnitine profiles in plasma and bloodspots.

Mol Genet Metab 2013 Sep-Oct;110(1-2):116-21. Epub 2013 Apr 13.

Department of Medical Genetics, UMC Utrecht, The Netherlands Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.008DOI Listing
March 2014

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU.

Mol Genet Metab 2013 Jun 21;109(2):121-4. Epub 2013 Mar 21.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.03.006DOI Listing
June 2013

Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.

BMJ Case Rep 2012 Nov 30;2012. Epub 2012 Nov 30.

Department of Ophthalmology, UMC Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/bcr-2012-006301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543320PMC
November 2012

Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants.

Pediatrics 2012 Jul 25;130(1):e191-8. Epub 2012 Jun 25.

Department of Metabolic Diseases and Netherlands Metabolomics Center, University Medical Center Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1542/peds.2011-3751DOI Listing
July 2012

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

J Med Genet 2012 May;49(5):307-13

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-100778DOI Listing
May 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.

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

Metabolic profiles in children during fasting.

Pediatrics 2011 Apr 21;127(4):e1021-7. Epub 2011 Mar 21.

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

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http://dx.doi.org/10.1542/peds.2010-1706DOI Listing
April 2011

Exercise stress testing in children with metabolic or neuromuscular disorders.

Int J Pediatr 2010 15;2010. Epub 2010 Jul 15.

Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, NL 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1155/2010/254829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2913792PMC
July 2011

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.

J Inherit Metab Dis 2010 Dec 24;33 Suppl 3:S283-8. Epub 2010 Jun 24.

Department of Metabolic and Endocrine Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Huispost KC02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9149-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757265PMC
December 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.

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

[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands].

Ned Tijdschr Geneeskd 2009 May;153(18):848-53

Universitair Medisch Centrum Utrecht.

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May 2009

Yield of additional metabolic studies in neurodevelopmental disorders.

Ann Neurol 2008 Aug;64(2):212-7

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

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http://dx.doi.org/10.1002/ana.21435DOI Listing
August 2008

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

Eur J Pediatr 2002 Oct 13;161 Suppl 1:S120-3. Epub 2002 Sep 13.

Beatrix Children's Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1017-6DOI Listing
October 2002

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

Eur J Pediatr 2002 Oct 24;161 Suppl 1:S112-9. Epub 2002 Aug 24.

Department of Paediatrics, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1016-7DOI Listing
October 2002

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1.

Eur J Pediatr 2002 Oct 17;161 Suppl 1:S83-7. Epub 2002 Jul 17.

Beatrix Children's Hospital, University Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-002-1010-0DOI Listing
October 2002

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

Eur J Pediatr 2002 Oct 22;161 Suppl 1:S20-34. Epub 2002 Aug 22.

Department of Paediatrics, Beatrix Children's Hospital, University Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

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http://link.springer.com/10.1007/s00431-002-0999-4
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http://dx.doi.org/10.1007/s00431-002-0999-4DOI Listing
October 2002

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection.

Pediatrics 2002 Apr;109(4):e65

Beatrix Children's Hospital, Groningen, The Netherlands.

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http://dx.doi.org/10.1542/peds.109.4.e65DOI Listing
April 2002