[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].
Yeste Fernández
D
D
Laboratorio de Metabolopatías, Hospital Universitari Materno Infantil Vall d'Hebron, Barcelona.
Castelló Girona
F
F
Mora Graupera
J
J
Riudor Taravila
E
E
Arranz Amo
J
J
Ribes Rubió
A
A
Pérez Cerdá
C
C
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000138:Acidosis / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D003128:Coma / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007657:Ketone Bodies / Q000378:metabolism; D007662:Ketosis / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology*; D012867:Skin / Q000201:enzymology
D007657:Ketone Bodies; D000102:Acetyl-CoA C-Acyltransferase