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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Detalles Bibliográficos
Autores principales: Aminah, Siti, Huda, Fathul, Gamayani, Uni, Pusparini, Iin, Mochyadin, Mochammad Faisal Afif, Sribudiani, Yunia, Ibrahim, Norlinah Mohamed, Achmad, Tri Hanggono
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319015/
https://www.ncbi.nlm.nih.gov/pubmed/34345727
http://dx.doi.org/10.1016/j.heliyon.2021.e07519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319015/
https://www.ncbi.nlm.nih.gov/pubmed/34345727
http://dx.doi.org/10.1016/j.heliyon.2021.e07519

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