Biotinidase deficiency and eye

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

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

Current issue Archive Videos Articles in press About the journal Supplements Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

3/4/2002
vol. 104

Send email

Copy url:

abstract:

Review article

Biotinidase deficiency and eye

Małgorzata Mrugacz

,

Alina Bakunowicz-Łazarczyk

,

Dorota Średzińska-Kita

Online publish date: 2002/09/22

View full text Get citation

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.

keywords:

Biotinidase deficiency and eye

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

biotinidase deficiency, eye

Małgorzata Mrugacz

,

Alina Bakunowicz-Łazarczyk

,

Dorota Średzińska-Kita