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Journal of Inherited Metabolic Disease|July 6, 2017
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disordersFemke C C Klouwer, Sacha Ferdinandusse, Henk van Lenthe, et al.
Molecular Genetics and Metabolism|April 13, 2016
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced geneticsMartin J A Schackmann, Rob Ofman, Björn M van Geel, et al.
Biochemical Pharmacology|October 27, 2009
Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosisCátia C P Aires, Lodewijk Ijlst, Femke Stet, et al.
Arthritis and Rheumatism|October 18, 2002
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndromeJoost Frenkel, Ger T Rijkers, Saskia H L Mandey, et al.
Plos One|August 23, 2012
Bezafibrate for X-linked adrenoleukodystrophyMarc Engelen, Luc Tran, Rob Ofman, et al.
American Journal of Nephrology|June 18, 2005
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelYaacov Frishberg, Choni Rinat, Adel Shalata, et al.
Journal of Human Genetics|February 1, 2003
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiencyRoel J P Smeets, Jan A M Smeitink, Ben A Semmekrot, et al.
Journal of Inherited Metabolic Disease|December 21, 2010
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenaseStinne P Schmidt, Thomas J Corydon, Christina B Pedersen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 20, 2007
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometryLap-Kay Law, Nelson Leung-Sang Tang, Joannie Hui, et al.
American Journal of Human Genetics|January 20, 2007
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorClaus Lenski, R Frank Kooy, Edwin Reyniers, et al.
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