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

Internet

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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