The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantoth...

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Detalles Bibliográficos
Autores principales: Tran, Van Khanh, Vu, Chi Dung, Tran, Hai Anh, Lien, Nguyen Thi Kim, Tung, Nguyen Van, Lan, Nguyen Ngoc, Tran, Huy Thinh, Hoang, Nguyen Huy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615552/
https://www.ncbi.nlm.nih.gov/pubmed/37904482
http://dx.doi.org/10.1097/MD.0000000000034853

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615552/
https://www.ncbi.nlm.nih.gov/pubmed/37904482
http://dx.doi.org/10.1097/MD.0000000000034853

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