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An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
BACKGROUND: Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually l...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277805/ https://www.ncbi.nlm.nih.gov/pubmed/35820891 http://dx.doi.org/10.1186/s12887-022-03414-y |