Title : Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.

Pub. Date : 1996 Oct

PMID : 9001814






1 Functional Relationships(s)
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1 Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. Isoleucine acetyl-CoA acetyltransferase 1 Homo sapiens