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Inherited Metabolic Disorders Presenting with Ataxia

Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures,...

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Detalles Bibliográficos
Autores principales: Silver, Grace, Mercimek-Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432519/
https://www.ncbi.nlm.nih.gov/pubmed/32752260
http://dx.doi.org/10.3390/ijms21155519