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Article

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

BMC neurology - 21 Jun 2023

Yin Jin-Hui, Hu Wen-Zheng, Huang Yue

Abstract excerpt

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-old boy with eight years of walking difficulties, and was ever misdiagnosed as spinocerebellar ataxia. We found this...

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Identifiers

PMID: 37344817
DOI: 10.1186/s12883-023-03267-7
PMCID: PMC10286434

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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