Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder
ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin. FSASD is characterized by aberrant accumulation of unconjugated “free” sialic acid (Neu5Ac) within lysosomes. Depending o...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wiley
2025-07-01
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| Rangatū: | JIMD Reports |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1002/jmd2.70029 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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