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[Biotinidase deficiency and eye]
Małgorzata Mrugacz1, Alina Bakunowicz-Łazarczyk, Dorota Sredzińska-Kita
1Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
Klinika Oczna
|March 1, 2003
Abstract:
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.