[Biotinidase deficiency--a case report].
Biotinidase deficiency is a disorder of biotin metabolism. Heterogeneity of clinical course is presented. A girl with biotinidase deficiency is described.
Mrugacz
Małgorzata
M
Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
Bakunowicz-Łazarczyk
Alina
A
D001710:Biotin / Q000627:therapeutic use*; D028921:Biotinidase Deficiency / Q000150:complications / Q000188:drug therapy* / Q000378:metabolism*; D005128:Eye Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D013997:Time Factors; D016896:Treatment Outcome
D001710:Biotin