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Fucosidosis in a Chinese boy: a case report and literature review

Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha-l-fucosidase enzyme. There are fewer than 120 cases of this disease worldwide and very few reported in Chinese children. Here, we report a Chinese boy presenting with psychomotor regression, dermatological abnor...

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Detalles Bibliográficos
Autores principales:	Wang, Lingxing, Yang, Meili, Hong, Shanyan, Tang, Ting, Zhuang, Jiaxin, Huang, Honghong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132800/ https://www.ncbi.nlm.nih.gov/pubmed/32238081 http://dx.doi.org/10.1177/0300060520911269

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