Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr. Hasan Sadikin Central General Hospital has received a...

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Detalhes bibliográficos
Publicado no:Heliyon
Main Authors: Aminah, Siti, Huda, Fathul, Gamayani, Uni, Pusparini, Iin, Mochyadin, Mochammad Faisal Afif, Sribudiani, Yunia, Ibrahim, Norlinah Mohamed, Achmad, Tri Hanggono
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8319015/
https://ncbi.nlm.nih.gov/pubmed/34345727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heliyon.2021.e07519
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