[Biotinidase deficiency and eye].
Biotinidase deficiency is an autosomal recessive disorder depending on the deficiency of 4 biotin-containing carboxylases. This disease can lead to variety of neurologic, ophthalmologic and cutaneous symptoms, when untreated.
Mrugacz
Małgorzata
M
Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
Bakunowicz-Łazarczyk
Alina
A
Sredzińska-Kita
Dorota
D
D001710:Biotin / Q000737:chemistry / Q000627:therapeutic use*; D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000188:drug therapy*; D005128:Eye Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology; D006801:Humans
D001710:Biotin