[Biotinidase deficiency].
Casado de Frías
E
E
D000217:Acyltransferases / Q000378:metabolism; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000378:metabolism; D043523:Biotinidase; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis / Q000235:genetics
D001710:Biotin; D000217:Acyltransferases; D000581:Amidohydrolases; D043523:Biotinidase
Defecto de biotinidasa.