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

Pediatric Research

Volumn 56, Issue 1, 2004, Pages 60-64

  Zhang, Gai Xiu ^a   Fukao, Toshiyuki ^a   Rolland, Marie Odile ^b   Zabot, Marie Therese ^b   Renom, Gilles ^c   Touma, Elias ^d   Kondo, Masashi ^a   Matsuo, Naoki ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b HÔPITAL DEBROUSSE   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Abou Jaoude Hospital   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; COMPLEMENTARY DNA; GENOMIC DNA; MITOCHONDRIAL ENZYME; RNA;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INBORN ERROR OF METABOLISM; MALE; PRIORITY JOURNAL; SKIN BIOPSY;

ACETYL-COA C-ACYLTRANSFERASE; ACYL COENZYME A; CELL LINE, TRANSFORMED; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; ENZYME ACTIVATION; FIBROBLASTS; HUMANS; IMMUNOBLOTTING; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIA; POINT MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 3042592385     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000129657.48122.52     Document Type: Article

References (16)

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