[Biotinidase deficiency. Its form of presentation and response to treatment].
Campistol
J
J
Servei Neurología, Unitat Integrada, H. Clínic-H. Sant Joan de Déu, Barcelona.
Vilaseca
M A
MA
Ribes
A
A
Riudor
E
E
D000217:Acyltransferases / Q000172:deficiency* / Q000378:metabolism; D000581:Amidohydrolases / Q000172:deficiency* / Q000378:metabolism; D001710:Biotin / Q000378:metabolism / Q000627:therapeutic use; D043523:Biotinidase; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism
D001710:Biotin; D000217:Acyltransferases; D000581:Amidohydrolases; D043523:Biotinidase