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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 12, 2012
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acidsMichel van Weeghel, Heleen te Brinke, Henk van Lenthe, et al.
Annals of Neurology|November 10, 2005
Clinical and biochemical spectrum of D-bifunctional protein deficiencySacha Ferdinandusse, Simone Denis, Petra A W Mooyer, et al.
Mitochondrion|January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|January 5, 2024
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomicsFrédéric M Vaz, Pippa Staps, Jan Bert van Klinken, et al.
Plos One|April 29, 2016
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and ManMalu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, et al.
JIMD Reports|November 18, 2020
Neonatal carnitine concentrations in relation to gestational age and weightLoek L Crefcoeur, Monique G M de Sain-van der Velden, Sacha Ferdinandusse, et al.
Biochimie|March 1, 2011
A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liverMarco Fidaleo, Ségolène Arnauld, Marie-Claude Clémencet, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
Hepatology (Baltimore, Md.)|May 29, 2014
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotypeFrédéric M Vaz, Coen C Paulusma, Hidde Huidekoper, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
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