title: [Biotinidase deficiency. Its form of presentation and response to treatment].
authors.affiliation: Servei Neurología, Unitat Integrada, H. Clínic-H. Sant Joan de Déu, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: E
authors.initials: E
authors.lastname: Riudor
mesh_terms: 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
chemical_list: D001710:Biotin; D000217:Acyltransferases; D000581:Amidohydrolases; D043523:Biotinidase