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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2022-07-01T00:00:00Z.
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