Frederic M Vaz

Frederic M Vaz

UNVERIFIED PROFILE

Are you Frederic M Vaz?   Register this Author

Register author
Frederic M Vaz

Frederic M Vaz

Publications by authors named "Frederic M Vaz"

Are you Frederic M Vaz?   Register this Author

100Publications

2146Reads

26Profile Views

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

Hum Mutat 2019 Oct 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23839DOI Listing
October 2019

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2019 Oct 18. 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13353-019-00523-wDOI Listing
October 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 Sep 25;317(3):E494-E502. Epub 2019 Jun 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajpendo.00534.2018DOI Listing
September 2019

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.

View Article

Download full-text PDF

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

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

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2018.10.017DOI Listing
April 2019

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

J Inherit Metab Dis 2019 Mar 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.

View Article

Download full-text PDF

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

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

J Inherit Metab Dis 2019 Mar 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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jimd.12042
Publisher Site
http://dx.doi.org/10.1002/jimd.12042DOI Listing
March 2019

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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000450984DOI Listing
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2015.204DOI Listing
October 2016

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

Am J Hum Genet 2008 Oct 25;83(4):489-94. Epub 2008 Sep 25.

The Metabolic Disease Unit, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2008.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561931PMC
October 2008

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome.

Clin Chem 2008 Feb 10;54(2):371-8. Epub 2007 Dec 10.

Department of Clinical Chemistry, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2007.095711DOI Listing
February 2008

Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis.

FEBS J 2007 Nov 18;274(22):5845-51. Epub 2007 Oct 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1742-4658.2007.06108.xDOI Listing
November 2007

PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation.

Biochim Biophys Acta 2007 Sep 13;1767(9):1134-42. Epub 2007 Jul 13.

Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbabio.2007.07.001DOI Listing
September 2007

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.

Mol Genet Metab 2007 Jan 28;90(1):24-9. Epub 2006 Aug 28.

Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases (F0-224), Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.07.006DOI Listing
January 2007

Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat.

Anal Biochem 2006 Jul 2;354(1):132-9. Epub 2006 May 2.

Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2006.04.007DOI Listing
July 2006

Identification and characterization of human cardiolipin synthase.

FEBS Lett 2006 May 27;580(13):3059-64. Epub 2006 Apr 27.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.febslet.2006.04.054DOI Listing
May 2006

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.

Pediatr Res 2005 Jun 17;57(6):760-4. Epub 2005 Mar 17.

Department of General Pediatrics, University Children's Hospital, 40225 Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1203/01.PDR.0000157915.26049.47DOI Listing
June 2005

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.

J Lipid Res 2005 Jun 1;46(6):1182-95. Epub 2005 Apr 1.

Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.jlr.org/lookup/doi/10.1194/jlr.M500056-JLR200
Publisher Site
http://dx.doi.org/10.1194/jlr.M500056-JLR200DOI Listing
June 2005

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse.

Biochem J 2005 Apr;387(Pt 1):185-93

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BJ20041489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1134946PMC
April 2005

The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome.

J Biol Chem 2004 Oct 10;279(43):44394-9. Epub 2004 Aug 10.

Department of Biological Sciences, Wayne State University, Detroit, Michigan 48202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M405479200DOI Listing
October 2004

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Am J Med Genet A 2004 May;126A(4):349-54

Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20660
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20660DOI Listing
May 2004

Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.

Mol Microbiol 2004 Jan;51(1):149-58

Department of Biological Science, Wayne State University, Detroit, MI 48202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1365-2958.2003.03802.xDOI Listing
January 2004

Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.

J Biol Chem 2003 Oct 20;278(44):43089-94. Epub 2003 Aug 20.

Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P. O. Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M305956200DOI Listing
October 2003

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

Clin Chem 2002 Jun;48(6 Pt 1):826-34

Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
June 2002

Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae.

FEMS Microbiol Lett 2002 Apr;210(1):19-23

Institute for Wine Biotechnology, Department of Viticulture and Oenology, Stellenbosch University, 7600, South Africa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1574-6968.2002.tb11154.xDOI Listing
April 2002

Carnitine biosynthesis in mammals.

Biochem J 2002 Feb;361(Pt 3):417-29

Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Paediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1222323PMC
http://dx.doi.org/10.1042/0264-6021:3610417DOI Listing
February 2002