Publications by authors named "Sacha Ferdinandusse"

100Publications

Neonatal carnitine concentrations in relation to gestational age and weight.

JIMD Rep 2020 Nov 8;56(1):95-104. Epub 2020 Sep 8.

Reference Laboratory for Neonatal Screening, Centre for Health Protection Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands.

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http://dx.doi.org/10.1002/jmd2.12162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653253PMC
November 2020

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

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.

Front Cell Dev Biol 2020 29;8:690. Epub 2020 Jul 29.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, Amsterdam Gastroenterology and Metabolism, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fcell.2020.00690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438929PMC
July 2020

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

J Inherit Metab Dis 2020 Jun 18. Epub 2020 Jun 18.

Department of Pediatric Neurology, Radboud university medical center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, Netherlands.

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http://dx.doi.org/10.1002/jimd.12275DOI Listing
June 2020

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

JIMD Rep 2020 May 25;53(1):61-70. Epub 2020 Mar 25.

Department of Pediatric Neurology Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour Nijmegen The Netherlands.

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http://dx.doi.org/10.1002/jmd2.12099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203653PMC
May 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

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

Am J Med Genet A 2020 04 5;182(4):780-784. Epub 2020 Feb 5.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61498DOI Listing
April 2020

ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery.

Transl Stroke Res 2020 10 23;11(5):1041-1051. Epub 2020 Jan 23.

Department of Neurology, Chonnam National University Medical School, Gwangju, 61469, South Korea.

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http://dx.doi.org/10.1007/s12975-020-00779-zDOI Listing
October 2020

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Mol Genet Metab 2020 03 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.01.002DOI Listing
March 2020

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2020 Feb 18;61(1):87-91. Epub 2019 Oct 18.

Department of Pediatrics, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00523-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968987PMC
February 2020

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 mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Hum Mutat 2019 10 3;40(10):1899-1904. Epub 2019 Jul 3.

Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism Research Institute, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.23839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790604PMC
October 2019

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

J Inherit Metab Dis 2019 03 21;42(2):303-312. Epub 2019 Feb 21.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/jimd.12042
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http://dx.doi.org/10.1002/jimd.12042DOI Listing
March 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

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

J Inherit Metab Dis 2019 03 5;42(2):197-208. Epub 2019 Feb 5.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12008DOI Listing
March 2019

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Subcell Biochem 2018;89:345-365

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

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http://link.springer.com/10.1007/978-981-13-2233-4_15
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http://dx.doi.org/10.1007/978-981-13-2233-4_15DOI Listing
June 2019

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Biochim Biophys Acta Mol Basis Dis 2018 11 1;1864(11):3650-3658. Epub 2018 Sep 1.

Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, Amsterdam Cardiovascular Sciences, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.08.041DOI Listing
November 2018

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

Orphanet J Rare Dis 2018 08 24;13(1):146. Epub 2018 Aug 24.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0888-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109347PMC
August 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

Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

JIMD Rep 2019 20;43:103-109. Epub 2018 Jun 20.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/8904_2018_111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323015PMC
June 2018

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Biochim Biophys Acta Mol Basis Dis 2018 Mar 26;1864(3):952-958. Epub 2017 Dec 26.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2017.12.032DOI Listing
March 2018

Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

J Inherit Metab Dis 2018 05 5;41(3):489-498. Epub 2017 Dec 5.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0114-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959966PMC
May 2018

Mitochondrial disruption in peroxisome deficient cells is hepatocyte selective but is not mediated by common hepatic peroxisomal metabolites.

Mitochondrion 2018 03 1;39:51-59. Epub 2017 Sep 1.

KU Leuven - University of Leuven, Department of Pharmaceutical and Pharmacological Sciences, Laboratory of Cell Metabolism, B-3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.08.013DOI Listing
March 2018

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.

J Inherit Metab Dis 2018 05 28;41(3):479-487. Epub 2017 Aug 28.

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0076-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959964PMC
May 2018

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.

J Med Case Rep 2017 Aug 8;11(1):218. Epub 2017 Aug 8.

Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.

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http://dx.doi.org/10.1186/s13256-017-1365-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547663PMC
August 2017

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

JIMD Rep 2018 29;39:83-87. Epub 2017 Jul 29.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953898PMC
July 2017

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

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

J Inherit Metab Dis 2017 11 4;40(6):875-881. Epub 2017 Jul 4.

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

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http://dx.doi.org/10.1007/s10545-017-0064-0DOI Listing
November 2017

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Mol Genet Metab 2017 08 17;121(4):325-328. Epub 2017 Jun 17.

Department of Medical Genetics, Oslo University Hospital, P.B 4956 Nydalen, 0424 Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.004DOI Listing
August 2017

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Mol Genet Metab 2017 07 6;121(3):279-282. Epub 2017 May 6.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, 1105, AZ, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.05.003DOI Listing
July 2017

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Methods Mol Biol 2017 ;1595:329-342

Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6937-1_30DOI Listing
May 2017

Bile acid analysis in human disorders of bile acid biosynthesis.

Mol Aspects Med 2017 08 22;56:10-24. Epub 2017 Mar 22.

Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.mam.2017.03.003DOI Listing
August 2017

Galactose Epimerase Deficiency: Expanding the Phenotype.

JIMD Rep 2017 1;37:19-25. Epub 2017 Mar 1.

Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra, EPE, Avenida Afonso Romão, Coimbra, 3000-206, Portugal.

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http://dx.doi.org/10.1007/8904_2017_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740041PMC
March 2017

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 04 2;120(4):342-349. Epub 2017 Feb 2.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382105PMC
April 2017

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Histochem Cell Biol 2017 Apr 24;147(4):537-541. Epub 2016 Dec 24.

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

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http://dx.doi.org/10.1007/s00418-016-1532-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359384PMC
April 2017

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

J Med Genet 2017 05 31;54(5):330-337. Epub 2016 Oct 31.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2016-104132DOI Listing
May 2017

Cholic acid therapy in Zellweger spectrum disorders.

J Inherit Metab Dis 2016 11 28;39(6):859-868. Epub 2016 Jul 28.

Department of Pediatric Neurology, Emma Children's Hospital/Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065608PMC
November 2016

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Mov Disord 2016 11 12;31(11):1733-1739. Epub 2016 Jul 12.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/mds.26704DOI Listing
November 2016

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

J Neurol 2016 Aug 26;263(8):1552-8. Epub 2016 May 26.

Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA7402, Université de Montpellier, CHU Montpellier, 641 Avenue du Doyen Gaston Giraud, 34093, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1007/s00415-016-8167-3DOI Listing
August 2016

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Neuropediatrics 2016 Aug 18;47(4):205-20. Epub 2016 Apr 18.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1582140DOI Listing
August 2016

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

J Inherit Metab Dis 2016 07 4;39(4):531-43. Epub 2016 Mar 4.

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

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http://dx.doi.org/10.1007/s10545-016-9922-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920857PMC
July 2016

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Clin Case Rep 2016 02 21;4(2):177-81. Epub 2015 Dec 21.

Department of Neurology Oslo University Hospital PO Box 4956 Nydalen Oslo N-0424 Norway; Department of Neurology Faculty of Medicine University of Oslo PO Box 1078 Blindern Oslo N-0316 Norway.

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http://dx.doi.org/10.1002/ccr3.434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736514PMC
February 2016

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum.

Front Cell Dev Biol 2015 28;3:83. Epub 2016 Jan 28.

Laboratory Genetic Metabolic Diseases, Laboratory Division, Departments of Paediatrics and Clinical Chemistry, Academic Medical Center, Emma Children's Hospital, University of Amsterdam Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fcell.2015.00083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729952PMC
February 2016

Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

Eur J Paediatr Neurol 2016 Mar 1;20(2):331-335. Epub 2015 Dec 1.

Department of Pediatric Neurology, Goethe University Hospital, Frankfurt, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.008DOI Listing
March 2016

Zellweger spectrum disorders: clinical overview and management approach.

Orphanet J Rare Dis 2015 Dec 1;10:151. Epub 2015 Dec 1.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0368-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666198PMC
December 2015

Human disorders of peroxisome metabolism and biogenesis.

Biochim Biophys Acta 2016 May 22;1863(5):922-33. Epub 2015 Nov 22.

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

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http://dx.doi.org/10.1016/j.bbamcr.2015.11.015DOI Listing
May 2016

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

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

J Inherit Metab Dis 2016 Jan 19;39(1):93-106. Epub 2015 Aug 19.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre (AMC), University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9880-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710674PMC
January 2016

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Mol Genet Metab 2015 Aug 24;115(4):168-73. Epub 2015 Jun 24.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne Australia; Department of Paediatrics, University of Melbourne, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153002
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http://dx.doi.org/10.1016/j.ymgme.2015.06.008DOI Listing
August 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

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
June 2015

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

Mol Genet Metab 2015 Aug 15;115(4):161-7. Epub 2015 May 15.

Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Orange, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852729PMC
August 2015

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

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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November 2014

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Am J Med Genet A 2015 Jan 22;167A(1):211-4. Epub 2014 Oct 22.

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http://doi.wiley.com/10.1002/ajmg.a.36803
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January 2015

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

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http://dx.doi.org/10.1093/brain/awu216DOI Listing
November 2014

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Neurology 2014 Mar 19;82(11):963-8. Epub 2014 Feb 19.

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http://dx.doi.org/10.1212/WNL.0000000000000219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963001PMC
March 2014

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

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Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, Siena, 53100, Italy.

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http://dx.doi.org/10.1007/8904_2011_102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565677PMC
February 2013

Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites.

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Laboratory Genetic Metabolic Diseases, Depts. of Clinical Chemistry and Paediatrics, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.

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December 2012

Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids.

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Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1194/jlr.M024463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371241PMC
July 2012

Phytanic acid metabolism in health and disease.

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Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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September 2011

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Orphanet J Rare Dis 2011 Mar 10;6. Epub 2011 Mar 10.

Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617PMC
March 2011

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma.

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Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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November 2010

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

J Med Genet 2010 Sep 20;47(9):608-15. Epub 2010 Jul 20.

Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics/Emma Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2009.074302DOI Listing
September 2010

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

J Neurol Neurosurg Psychiatry 2010 Mar;81(3):310-2

Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jnnp.2009.176255DOI Listing
March 2010

Bile acids: the role of peroxisomes.

J Lipid Res 2009 Nov 8;50(11):2139-47. Epub 2009 Apr 8.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759819PMC
November 2009

Toxicity of peroxisomal C27-bile acid intermediates.

Mol Genet Metab 2009 Mar 10;96(3):121-8. Epub 2009 Jan 10.

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

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http://dx.doi.org/10.1016/j.ymgme.2008.11.165DOI Listing
March 2009

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency.

BMJ Case Rep 2009 2;2009. Epub 2009 Feb 2.

Addenbrooke's Hospital, Department of Neurology, Hills Road, Cambridge, CB2 0QQ, UK.

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November 2011