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Clinical and genetic features of a case with juvenile onset sandhoff disease

BACKGROUND: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the literature on juvenile onset SD. CASE PRESENTATION: A 14 years-o...

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Detalles Bibliográficos
Autores principales:	Yin, Jin-Hui, Hu, Wen-Zheng, Huang, Yue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10286434/ https://www.ncbi.nlm.nih.gov/pubmed/37344817 http://dx.doi.org/10.1186/s12883-023-03267-7

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