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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| 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 |