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Clinical and genetic characteristics of type I sialidosis patients in mainland China
OBJECTIVE: Type I sialidosis (ST‐1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST‐1 patients in mainland China. METHODS: We reported in detail the cases of five Chinese ST‐1 patients from two centers, and summarized all worldwide cases. Then, we compared th...
Autores principales: | Lv, Rui‐Juan, Li, Tao‐Ran, Zhang, Yu‐Di, Shao, Xiao‐Qiu, Wang, Qun, Jin, Li‐Ri |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318099/ https://www.ncbi.nlm.nih.gov/pubmed/32472645 http://dx.doi.org/10.1002/acn3.51058 |
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