[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin].
Marandian
M H
MH
Soltanabadi
A
A
Lessani
M
M
Kouchanfar
A
A
Fallah
A
A
D000505:Alopecia / Q000209:etiology; D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase; D005260:Female; D006801:Humans; D007223:Infant; D011596:Psychomotor Disorders / Q000209:etiology*; D012871:Skin Diseases / Q000209:etiology*
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase
Déficit en biotinidase: maladie à manifestations principalement neuro-cutanées curable par la biotine.