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Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report

We describe a patient with ultra-rare disease, alkaptonuria, who developed tyrosine keratopathy following nitisinone therapy of 2 mg on alternate days. His vision became impaired approximately 7 weeks following the commencement of nitisinone and ophthalmological examination at week nine showed chara...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Stewart, R. M. K., Briggs, M. C., Jarvis, J. C., Gallagher, J. A., Ranganath, L.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241204/
https://ncbi.nlm.nih.gov/pubmed/24997710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_307
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