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: | Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou |
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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 |
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