title: Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
authors: Laboratoire de Biochimie, Hopital de Bicêtre, Le Kremlin-Bicetre, France.
authors: M
authors: M
authors: Brivet
authors: A
authors: A
authors: Slama
authors: D S
authors: DS
authors: Millington
authors: C R
authors: CR
authors: Roe
authors: F
authors: F
authors: Demaugre
authors: A
authors: A
authors: Legrand
authors: A
authors: A
authors: Boutron
authors: F
authors: F
authors: Poggi
authors: J M
authors: JM
authors: Saudubray
mesh_terms: D000215:Acylation; D002331:Carnitine / Q000032:analysis* / Q000378:metabolism; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007425:Intracellular Membranes / Q000378:metabolism; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D002333:Carnitine Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine