Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.

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Title: Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Authors: Peng ML; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan., Chau SF; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan., Chien JY; Department of Biochemical Science and Technology, National Chiayi University, Chiayi 600355, Taiwan., Woon PY; Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien 970374, Taiwan., Chen YC; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan., Cheang WM; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan., Tsai HY; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan., Huang SP; Department of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.; Department of Biochemical Science and Technology, National Chiayi University, Chiayi 600355, Taiwan.
Source: Genes [Genes (Basel)] 2025 Jan 25; Vol. 16 (2). Date of Electronic Publication: 2025 Jan 25.
Publication Type: Journal Article; Review
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2073-4425
DOI:10.3390/genes16020151