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Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies

PURPOSE: To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and gene...

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Vydáno v:Case Rep Ophthalmol Med
Hlavní autoři: Magalhães, Augusto, Cunha, Ana Maria, Vilares-Morgado, Rodrigo, Leão-Teles, Elisa, Rodrigues, Esmeralda, Falcão, Manuel, Carneiro, Ângela, Breda, Jorge, Falcão-Reis, Fernando
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8267582/
https://ncbi.nlm.nih.gov/pubmed/34306784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2021/8866837
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