title: [Biotinidase deficiency--a case report].
abstract: Biotinidase deficiency is a disorder of biotin metabolism. Heterogeneity of clinical course is presented. A girl with biotinidase deficiency is described.
authors.affiliation: Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Mrugacz
authors.forename: Alina
authors.initials: A
authors.lastname: Bakunowicz-Łazarczyk
mesh_terms: 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
chemical_list: D001710:Biotin