Publications by authors named "Frederic M Vaz"

100Publications

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

Lipidomics in Nonalcoholic Fatty Liver Disease: Exploring Serum Lipids as Biomarkers for Pediatric Nonalcoholic Fatty Liver Disease.

J Pediatr Gastroenterol Nutr 2020 Oct;71(4):433-439

Department of Pediatric Gastroenterology and Nutrition, Amsterdam University Medical Centers, Location Academic Medical Center/Emma Children's Hospital, University of Amsterdam.

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http://dx.doi.org/10.1097/MPG.0000000000002875DOI Listing
October 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

Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.

Brain 2020 Sep;143(9):e77

Manchester Centre for Genomics Medicine, St Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1093/brain/awaa230DOI Listing
September 2020

Lipidomics in Non-alcoholic Fatty Liver Disease: Exploring Serum Lipids as Biomarkers for Pediatric NAFLD.

J Pediatr Gastroenterol Nutr 2020 Jul 30. Epub 2020 Jul 30.

Department of Pediatric Gastroenterology and Nutrition, Amsterdam University Medical Centers, Location Academic Medical Center/Emma Children's Hospital, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000002875DOI Listing
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

Plasma oxalate: comparison of methodologies.

Urolithiasis 2020 May 29. Epub 2020 May 29.

Infection and Immunity, University College London, London, UK.

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http://dx.doi.org/10.1007/s00240-020-01197-4DOI Listing
May 2020

Skeletal muscle in healthy humans exhibits a day-night rhythm in lipid metabolism.

Mol Metab 2020 07 6;37:100989. Epub 2020 Apr 6.

Department of Nutrition and Movement Sciences, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, P.O. Box 616, 6200 MD Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.molmet.2020.100989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217992PMC
July 2020

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Mol Genet Metab 2020 05 12;130(1):16-26. Epub 2020 Feb 12.

Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.002DOI Listing
May 2020

Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.

J Inherit Metab Dis 2020 May 23;43(3):486-495. Epub 2019 Dec 23.

Department of Genetics and Genomic Sciences, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/jimd.12204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205564PMC
May 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

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.

Front Neurol 2019 17;10:762. Epub 2019 Jul 17.

Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

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http://dx.doi.org/10.3389/fneur.2019.00762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650569PMC
July 2019

Differential effects of a 40-hour fast and bile acid supplementation on human GLP-1 and FGF19 responses.

Am J Physiol Endocrinol Metab 2019 09 25;317(3):E494-E502. Epub 2019 Jun 25.

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

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http://dx.doi.org/10.1152/ajpendo.00534.2018DOI 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

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

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism Relat Disord 2019 04 15;61:245-247. Epub 2018 Oct 15.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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http://dx.doi.org/10.1016/j.parkreldis.2018.10.017DOI Listing
April 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

Meijer and Vloedman's histochemical demonstration of mitochondrial coupling obeys Lambert-Beer's law in the myocardium.

Histochem Cell Biol 2019 Jan 29;151(1):85-90. Epub 2018 Aug 29.

Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00418-018-1716-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328523PMC
January 2019

The Association of Acylcarnitines and Amino Acids With Age in Dutch and South-Asian Surinamese Living in Amsterdam.

J Clin Endocrinol Metab 2018 10;103(10):3783-3791

Department of Public Health, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1210/jc.2018-00809DOI Listing
October 2018

Bactericidal activity of amphipathic cationic antimicrobial peptides involves altering the membrane fluidity when interacting with the phospholipid bilayer.

Biochim Biophys Acta Biomembr 2018 11 11;1860(11):2404-2415. Epub 2018 Jun 11.

Swammerdam Institute for Life Sciences, Department of Molecular Biology and Microbial Food Safety, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbamem.2018.06.004DOI Listing
November 2018

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Mol Genet Metab 2018 05 21;124(1):50-56. Epub 2018 Mar 21.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.008DOI Listing
May 2018

Ethnic differences in metabolite signatures and type 2 diabetes: a nested case-control analysis among people of South Asian, African and European origin.

Nutr Diabetes 2017 Dec 19;7(12):300. Epub 2017 Dec 19.

Laboratory Genetic Metabolic Diseases, Academic Medical Centre, I. van Valkengoed, Meibergdreef 9, J2-209, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41387-017-0003-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865542PMC
December 2017

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

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.

Mol Genet Metab 2017 12 28;122(4):209-215. Epub 2017 Oct 28.

Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.012DOI Listing
December 2017

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Clin Chim Acta 2017 Dec 2;475:7-14. Epub 2017 Oct 2.

Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.09.024DOI Listing
December 2017

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 2018

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.

Hepatology 2018 08 11;68(2):590-598. Epub 2018 May 11.

Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA.

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http://dx.doi.org/10.1002/hep.29516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847420PMC
August 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

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

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

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

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

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

J Lipid Res 2017 05 17;58(5):1002-1007. Epub 2017 Mar 17.

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

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http://dx.doi.org/10.1194/jlr.P075051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408618PMC
May 2017

NTCP deficiency and persistently raised bile salts: an adult case.

J Inherit Metab Dis 2017 05 10;40(3):313-315. Epub 2017 Mar 10.

Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10545-017-0031-9DOI Listing
May 2017

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome.

Orphanet J Rare Dis 2017 03 9;12(1):49. Epub 2017 Mar 9.

The Heart Institute, Department of Pediatrics, the University of Cincinnati College of Medicine and Cincinnati Children's Hospital Medical Center, 240 Albert Sabin Way, Cincinnati, OH, 45229-7020, USA.

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http://dx.doi.org/10.1186/s13023-017-0605-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345250PMC
March 2017

Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Dig Dis 2017 1;35(3):259-260. Epub 2017 Mar 1.

Laboratory Genetic Metabolic Disease, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000450984DOI Listing
May 2017

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients.

Eur J Cancer 2017 02 4;72:235-243. Epub 2017 Jan 4.

Department of Pediatric Oncology/Hematology, Emma Children's Hospital/Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; Princess Máxima Center for Pediatric Oncology/Hematology, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09598049163306
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http://dx.doi.org/10.1016/j.ejca.2016.12.002DOI Listing
February 2017

Polyunsaturated fatty acid biostatus, phospholipase A activity and brain white matter microstructure across adolescence.

Neuroscience 2017 02 18;343:423-433. Epub 2016 Dec 18.

Division of Psychiatry Research, Zucker Hillside Hospital, Glen Oaks, NY 11004, USA; Center for Psychiatric Neuroscience, Feinstein Institute for Medical Research, Manhasset, NY 11030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2016.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029616PMC
February 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

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Mol Genet Metab Rep 2016 Jun 12;7:11-5. Epub 2016 Mar 12.

BioAnalytical Shared Resource Facility, Department of Physiology & Pharmacology, Oregon Health & Science University (OHSU), Portland, OR, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163000
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http://dx.doi.org/10.1016/j.ymgmr.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908045PMC
June 2016

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

JIMD Rep 2017 14;32:33-39. Epub 2016 Jun 14.

Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2.125, HPA EA60, 30.001, NL-9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362552PMC
June 2016

Dietary fat and fiber interactively modulate apoptosis and mitochondrial bioenergetic profiles in mouse colon in a site-specific manner.

Eur J Cancer Prev 2017 07;26(4):301-308

aProgram in Integrative Nutrition and Complex Diseases, Department of Nutrition and Food Science bDepartment of Clinical Chemistry, Center for Translational Environmental Health Research, Texas A&M University, College Station, Texas cLaboratory Genetic Metabolic Disease, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/CEJ.0000000000000263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104678PMC
July 2017

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

PLoS One 2016 28;11(4):e0154597. Epub 2016 Apr 28.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0154597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849772PMC
April 2017

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

Biochim Biophys Acta 2016 08 22;1862(8):1375-82. Epub 2016 Apr 22.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.04.012DOI 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

Vulnerability for new episodes in recurrent major depressive disorder: protocol for the longitudinal DELTA-neuroimaging cohort study.

BMJ Open 2016 Mar 1;6(3):e009510. Epub 2016 Mar 1.

Department of Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands University of Groningen, Neuroimaging Center, University Medical Center Groningen, The Netherlands Program for Mood and Anxiety Disorders, Department of Psychiatry, University of Groningen, University Medical Center Groningen, The Netherlands University of Groningen, Interdisciplinary Center Psychopathology and Emotion regulation (ICPE), University Medical Center Groningen, The Netherlands.

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http://dx.doi.org/10.1136/bmjopen-2015-009510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785288PMC
March 2016

New targets for monitoring and therapy in Barth syndrome.

Genet Med 2016 10 4;18(10):1001-10. Epub 2016 Feb 4.

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1038/gim.2015.204DOI Listing
October 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

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Eur J Pediatr 2016 Jan 10;175(1):143-6. Epub 2015 Jul 10.

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

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http://link.springer.com/10.1007/s00431-015-2584-7
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http://dx.doi.org/10.1007/s00431-015-2584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709371PMC
January 2016

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.

PLoS One 2015 26;10(6):e0131066. Epub 2015 Jun 26.

Transgenic Technology Laboratory, Cancer Research UK Beatson Institute, Garscube Estate, Switchback Road, Glasgow, G61 1BD, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131066PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483168PMC
April 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

Fatty acid metabolism and its longitudinal relationship with the hypothalamic-pituitary-adrenal axis in major depression: Associations with prospective antidepressant response.

Psychoneuroendocrinology 2015 Sep 11;59:1-13. Epub 2015 May 11.

Program for Mood Disorders, Department of Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.psyneuen.2015.04.027DOI Listing
September 2015

Principles and practice of lipidomics.

J Inherit Metab Dis 2015 Jan 20;38(1):41-52. Epub 2014 Nov 20.

Laboratory Genetic Metabolic Disease (F0-224), Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Academic Medical Center (AMC), Amsterdam, 1105 AZ, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9792-6DOI Listing
January 2015

Growth and fatty acid profiles of VLBW infants receiving a multicomponent lipid emulsion from birth.

J Pediatr Gastroenterol Nutr 2014 Apr;58(4):417-27

*Department of Pediatrics, Division of Neonatology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands †Department of Mother and Child Health, Salesi Children's Hospital, Ancona, Italy ‡Department of Clinical Chemistry and Pediatrics §Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MPG.0000000000000280DOI Listing
April 2014

Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.

Stem Cell Res 2013 Sep 28;11(2):806-19. Epub 2013 May 28.

Department of Biochemistry II, University Medical Center Göttingen, Humboldtallee 23, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.scr.2013.05.005DOI Listing
September 2013

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

New clinical and molecular insights on Barth syndrome.

Orphanet J Rare Dis 2013 Feb 14;8:27. Epub 2013 Feb 14.

Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence and Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini n, 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599367PMC
February 2013

Acylcarnitines: reflecting or inflicting insulin resistance?

Diabetes 2013 Jan;62(1):1-8

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

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http://dx.doi.org/10.2337/db12-0466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526046PMC
January 2013

The cellular and molecular mechanisms for neutropenia in Barth syndrome.

Eur J Haematol 2012 Mar 4;88(3):195-209. Epub 2011 Dec 4.

Department of Medicine, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/j.1600-0609.2011.01725.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445723PMC
March 2012

The dynamics of cardiolipin synthesis post-mitochondrial fusion.

Biochim Biophys Acta 2010 Aug 29;1798(8):1577-85. Epub 2010 Apr 29.

Department of Pharmacology and Therapeutics, University of Manitoba, Winnipeg, Canada.

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http://dx.doi.org/10.1016/j.bbamem.2010.04.007DOI Listing
August 2010

Enzymology of the carnitine biosynthesis pathway.

IUBMB Life 2010 May;62(5):357-62

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

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http://dx.doi.org/10.1002/iub.323DOI Listing
May 2010

The enigmatic role of tafazzin in cardiolipin metabolism.

Biochim Biophys Acta 2009 Oct 18;1788(10):2003-14. Epub 2009 Jul 18.

University of Amsterdam, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamem.2009.07.009DOI Listing
October 2009

Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.

FASEB J 2009 Aug 16;23(8):2349-59. Epub 2009 Mar 16.

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

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http://dx.doi.org/10.1096/fj.08-127985DOI Listing
August 2009