Article
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient.
Neuromuscular disorders : NMD - 1 Mar 2000
Thuillier L, Sevin C, Demaugre F, Brivet M, Rabier D, Droin V, Aupetit J, Abadi N, Kamoun P, Saudubray J M, Bonnefont J P
Abstract excerpt
Carnitine palmitoyl transferase II deficiency, an inherited disorder of long-chain fatty acid oxidation, may result in either a mild form (muscle disease in adults) or a severe form (hepatocardiomuscular syndrome in infants). The difference in severity between these two forms is related to a difference in levels of residual carnitine palmitoyl transferase II activity and long-chain fatty acid oxidation and in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.