An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
Abstract 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 even...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-07-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03414-y |