Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency

Clinica Chimica Acta

Volumn 255, Issue 1, 1996, Pages 67-83

  Fontaine, Monique ^a   Briand, Gilbert ^a,b   Ser, Nicole ^c   Armelin, Isabelle ^c   Rolland, Marie Odile ^d   Degand, Pierre ^a   Vamecq, Joseph ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c CHU PURPAN   (France)

^d HÔPITAL DEBROUSSE   (France)

Author keywords

2 Methylacetoacetyl CoA thiolase deficiency; Carnitine; Fatty acid oxidation defect; L Carnitine; Tiglylcarnitine

Indexed keywords

3 HYDROXY 2 METHYLBUTYRIC ACID; 3 HYDROXYISOVALERIC ACID; ACETYL COENZYME A ACYLTRANSFERASE; ACYLCARNITINE; ADIPIC ACID; ALPHA METHYLACETOACETYL COENZYME A THIOLASE; BICARBONATE; CARNITINE; TIGLYLGLYCINE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CASE REPORT; CELL CULTURE; ENZYME DEFICIENCY; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; METABOLIC ACIDOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RHINOPHARYNGITIS; SKIN FIBROBLAST; TWINS;

EID: 0030589027     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/0009-8981(96)06391-7     Document Type: Article

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