A biotinidase Km variant causing late onset bilateral optic neuropathy.

A patient with a newly recognised variant of biotinidase deficiency presented with acute loss of vision at the age of 10 years. Progressive bilateral optic neuropathy, spastic paraparesis, and a predominantly motor type neuropathy developed over the next five years. Metabolic investigations revealed...

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Detaylı Bibliyografya
Asıl Yazarlar: Ramaekers, V T, Suormala, T M, Brab, M, Duran, R, Heimann, G, Baumgartner, E R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1992
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1793569/
https://ncbi.nlm.nih.gov/pubmed/1739323
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