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Article

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Molecular genetics & genomic medicine - 1 Aug 2020

Han Xiaoxu, Wu Shijing, Wang Min, Li Hui, Huang Yan, Sui Ruifang

Abstract excerpt

BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1. METHODS: It was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular...

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Identifiers

PMID: 32453490
DOI: 10.1002/mgg3.1316
PMCID: PMC7434748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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