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Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B(6)

In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cyst...

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Detalhes bibliográficos
Main Authors: Tanzer, Fatos, Firat, Mehtap, Alagoz, Meral, Erdogan, Haydar
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3063262/
https://ncbi.nlm.nih.gov/pubmed/22698901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.07.2010.3200
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