TY  - GEN
AU  - Zhang,Gai Xiu
AU  - Fukao,Toshiyuki
AU  - Rolland,Marie-Odile
AU  - Zabot,Marie-Therese
AU  - Renom,Gilles
AU  - Touma,Elias
AU  - Kondo,Masashi
AU  - Matsuo,Naoki
AU  - Kondo,Naomi
TI  - Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA
SN  - 0031-3998
PY  - 2004///1222
KW  - Acetyl-CoA C-Acyltransferase
KW  - deficiency
KW  - Acyl Coenzyme A
KW  - metabolism
KW  - Cell Line, Transformed
KW  - Child, Preschool
KW  - DNA, Complementary
KW  - Enzyme Activation
KW  - Fibroblasts
KW  - cytology
KW  - Humans
KW  - Immunoblotting
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - diagnosis
KW  - Mitochondria
KW  - enzymology
KW  - Point Mutation
KW  - Severity of Illness Index
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1203/01.PDR.0000129657.48122.52
ER  -