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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2022-07-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!