[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment].
Departamento de Pediatría, Complejo Hospitalario Universitario de Santiago de Compostela.
M L
ML
Couce Pico
F
F
Martinón-Torres
D E
DE
Castiñeiras
J R
JR
Alonso-Fernández
J M
JM
Fraga
D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D001710:Biotin / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D013997:Time Factors
D001710:Biotin; D000581:Amidohydrolases
Deficiencia de biotinidasa: importancia de su diagnóstico neonatal y tratamiento precoz.