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eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
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SCImago Journal & Country Rank
3/4/2002
vol. 104
 
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abstract:
Review article

Biotinidase deficiency and eye

Małgorzata Mru­gacz
,
Ali­na Ba­ku­no­wi­cz-Ł­aza­rczyk
,
Do­ro­ta Śre­dziń­ska­-K­ita

Online publish date: 2002/09/22
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Biotinidase deficiency is an autosomal recessive disorder depending on the deficiency of 4 biotin-containing carboxylases. This disease can lead to variety of neurologic, ophthalmolgic and cutaneous symptoms, when untreated.
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biotinidase deficiency, eye

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