Publications by authors named "Peter M van Hasselt"

94Publications

Prime editing for functional repair in patient-derived disease models.

Nat Commun 2020 10 23;11(1):5352. Epub 2020 Oct 23.

Division of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584, EA, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/s41467-020-19136-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584657PMC
October 2020

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.

Acta Ophthalmol 2020 Oct 18. Epub 2020 Oct 18.

Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.

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http://dx.doi.org/10.1111/aos.14630DOI Listing
October 2020

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.

JIMD Rep 2020 Jul 2;54(1):87-97. Epub 2020 Jun 2.

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

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http://dx.doi.org/10.1002/jmd2.12128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358670PMC
July 2020

Hearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysis.

J Inherit Metab Dis 2020 Jun 24. Epub 2020 Jun 24.

Sylvia Toth Center for Multidisciplinary Follow up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12277DOI Listing
June 2020

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.

Metabolites 2020 May 18;10(5). Epub 2020 May 18.

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

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http://dx.doi.org/10.3390/metabo10050206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281020PMC
May 2020

The c.1A > C start codon mutation in is associated with a protracted disease course.

JIMD Rep 2020 Mar 7;52(1):23-27. Epub 2020 Feb 7.

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

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http://dx.doi.org/10.1002/jmd2.12097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052694PMC
March 2020

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

Int J Mol Sci 2020 Feb 1;21(3). Epub 2020 Feb 1.

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

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http://dx.doi.org/10.3390/ijms21030979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037085PMC
February 2020

Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.

Ann Clin Transl Neurol 2020 02 22;7(2):169-180. Epub 2020 Jan 22.

Department of Child Neurology, Center for Childhood White Matter Diseases, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/acn3.50975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034505PMC
February 2020

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Mol Genet Metab Rep 2020 Mar 27;22:100551. Epub 2019 Dec 27.

Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938934PMC
March 2020

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders.

J Inherit Metab Dis 2020 Jul 17;43(4):701-711. Epub 2020 Jan 17.

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

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http://dx.doi.org/10.1002/jimd.12201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383723PMC
July 2020

Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.

Biol Blood Marrow Transplant 2020 May 29;26(5):928-935. Epub 2019 Nov 29.

Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2019.11.025DOI Listing
May 2020

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Biochim Biophys Acta Gen Subj 2020 03 14;1864(3):129484. Epub 2019 Nov 14.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.129484DOI Listing
March 2020

Glucose transporter type 1 deficiency syndrome and the ketogenic diet.

J Inherit Metab Dis 2020 03 13;43(2):216-222. Epub 2019 Nov 13.

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/jimd.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078900PMC
March 2020

Inborn errors of enzymes in glutamate metabolism.

J Inherit Metab Dis 2020 03 11;43(2):200-215. Epub 2019 Oct 11.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078983PMC
March 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

N Engl J Med 2019 09;381(12):1185

University Medical Center Utrecht, Utrecht, the Netherlands

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http://dx.doi.org/10.1056/NEJMc1907427DOI Listing
September 2019

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Mol Genet Metab 2019 08 9;127(4):368-372. Epub 2019 Jul 9.

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

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http://dx.doi.org/10.1016/j.ymgme.2019.07.001DOI Listing
August 2019

Motor function impairment is an early sign of CLN3 disease.

Neurology 2019 07 10;93(3):e293-e297. Epub 2019 Jun 10.

From the Departments of Metabolic Diseases (W.F.E.K., P.M.v.H.), Pediatric Gastroenterology (E.E.S.N.), and Medical Physiology, Child Development and Exercise Center (M.v.B.), Wilhelmina Children's Hospital, University Medical Center Utrecht; Bartiméus Institute for the Visually Impaired (C.v.A., L.v.E.), Zeist and Doorn; and Center for Human Movement Sciences (B.C.H.H.), University Medical Center Groningen, University of Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000007773DOI Listing
July 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

J Inherit Metab Dis 2019 09 7;42(5):730-744. Epub 2019 Aug 7.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12129
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http://dx.doi.org/10.1002/jimd.12129DOI Listing
September 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.

J Inherit Metab Dis 2019 09 9;42(5):745-761. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12128DOI Listing
September 2019

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.

Mol Genet Metab 2019 05 15;127(1):51-57. Epub 2019 Mar 15.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.03.005DOI Listing
May 2019

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Metabolites 2019 Jan 11;9(1). Epub 2019 Jan 11.

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

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http://dx.doi.org/10.3390/metabo9010012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359237PMC
January 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608434PMC
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Mixed micellar system stabilized with saponins for oral delivery of vitamin K.

Colloids Surf B Biointerfaces 2018 Oct 23;170:521-528. Epub 2018 Jun 23.

Department of Pharmaceutics, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, 3584 CG Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.colsurfb.2018.06.049DOI Listing
October 2018

Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.

Biol Blood Marrow Transplant 2018 09 13;24(9):1808-1813. Epub 2018 Jun 13.

Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Sylvia Toth Center for Multidisciplinary Follow up after Hematopoietic Cell Transplantation, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.bbmt.2018.06.001DOI Listing
September 2018

Timing of cognitive decline in CLN3 disease.

J Inherit Metab Dis 2018 03 1;41(2):257-261. Epub 2018 Feb 1.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. Box 85090, 3508, AB, Utrecht, the Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0143-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830481PMC
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

A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration.

JAMA Ophthalmol 2017 12;135(12):1451-1453

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

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http://dx.doi.org/10.1001/jamaophthalmol.2017.4353DOI Listing
December 2017

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2018 07 11;41(4):641-646. Epub 2017 Sep 11.

Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0086-7DOI Listing
July 2018

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

J Med Genet 2018 02 28;55(2):137-142. Epub 2017 Aug 28.

Department of Paediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2017-104586DOI Listing
February 2018

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.

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

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.008DOI Listing
December 2016

Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives.

Neuropediatrics 2016 Oct 16;47(5):285-92. Epub 2016 Jun 16.

Sylvia Toth Center, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1584602DOI Listing
October 2016

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

Neurology 2016 Jul 3;87(1):103-11. Epub 2016 Jun 3.

From the Department of Child Neurology, Center for Childhood White Matter Disorders and Neuroscience Campus Amsterdam (D.F.v.R.,M.S.v.d.K., N.I.W.), Department of Pathology, Center for Childhood White Matter Disorders (M.B.), and Departments of Surgery (F.D.), Pediatric Gastroenterology (T.G.J.d.M.), and Radiology (M.M.A.C.v.D., J.I.M.L.V.), VU University Medical Center Amsterdam; Department of Pediatrics, Blood and Marrow Transplantation Program (J.J.B.), and Departments of Metabolic Disorders (P.M.v.H.) and Pathology (W.v.H.), University Medical Center Utrecht; Pediatric Surgical Center of Amsterdam (A.F.W.v.d.S.), Emma Children's Hospital Academic Medical Center and VU University Medical Center Amsterdam; Department of Surgery (D.J.G.), and Department of Internal Medicine, Division of Endocrinology and Metabolism (C.E.M.H.), Academic Medical Center Amsterdam; and Department of Clinical Chemistry (G.S.S.), VU Medical Center and Neuroscience Campus Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000002811DOI Listing
July 2016

A Mixed Micelle Formulation for Oral Delivery of Vitamin K.

Pharm Res 2016 09 31;33(9):2168-79. Epub 2016 May 31.

Department of Pharmaceutics, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, 3584 CG, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s11095-016-1954-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967097PMC
September 2016

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.

Blood 2016 06 26;127(24):3098-101. Epub 2016 Apr 26.

Department of Pediatric Neurology, Center for Childhood White Matter Disorders, VU University Medical Center, and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands;

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http://dx.doi.org/10.1182/blood-2016-03-708479DOI Listing
June 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

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
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http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

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

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:

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

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.

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

Expanding the clinical phenotype of COG6 deficiency.

J Med Genet 2014 Jun 25;51(6):425. Epub 2014 Mar 25.

Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102329DOI Listing
June 2014

Perioperative complications in patients diagnosed with mucopolysaccharidosis and the impact of enzyme replacement therapy followed by hematopoietic stem cell transplantation at early age.

Paediatr Anaesth 2014 May 10;24(5):521-7. Epub 2014 Mar 10.

Department of Anesthesiology, Intensive Care and Emergency Medicine, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1111/pan.12370
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http://dx.doi.org/10.1111/pan.12370DOI Listing
May 2014

[Hereditary fructose intolerance].

Ned Tijdschr Geneeskd 2014 ;158:A6889

UMCU, Utrecht.

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November 2014

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.

JAMA Neurol 2014 Feb;71(2):188-94

Department of Pediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2013.4915DOI Listing
February 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

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

High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.

JIMD Rep 2013 1;7:103-8. Epub 2012 Jul 1.

Department of Pediatric Hematology-Oncology, University Medical Center Utrecht/Wilhelmina Children's Hospital, Room number KC 03.063.0, 85090, 3508 AB, Utrecht, The Netherlands,

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http://link.springer.com/10.1007/8904_2012_156
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http://dx.doi.org/10.1007/8904_2012_156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575055PMC
February 2013

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

Metallomics 2012 Jul 4;4(7):606-13. Epub 2012 May 4.

Department of Metabolic Diseases, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1039/c2mt20034aDOI Listing
July 2012

[New Dutch practice guideline for administration of vitamin K to full-term newborns].

Ned Tijdschr Geneeskd 2011 ;155(18):A936

Spaarne Ziekenhuis, afd. Kindergeneeskunde, Hoofddorp, The Netherlands.

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October 2011

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

Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry.

Intensive Care Med 2011 Jun 11;37(6):1014-20. Epub 2011 Mar 11.

Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Room KC 03.063.0, PO Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00134-011-2175-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098354PMC
June 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

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Hum Mol Genet 2010 Sep 6;19(18):3623-33. Epub 2010 Jul 6.

Center for Child and Adolescent Medicine, Center for Metabolic Diseases Heidelberg, Department I, Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq278DOI Listing
September 2010

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Eur J Pediatr 2007 Mar 7;166(3):229-34. Epub 2006 Sep 7.

Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-006-0234-9DOI Listing
March 2007