Free Sialic Acid Storage Disorder: Progress and Promise

Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumula...

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Udgivet i:Neurosci Lett
Main Authors: Huizing, Marjan, Hackbarth, Mary E., Adams, David R, Wasserstein, Melissa, Patterson, Marc C, Walkley, Steven U, Gahl, William A
Format: Artigo
Sprog:Inglês
Udgivet: 2021
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8175077/
https://ncbi.nlm.nih.gov/pubmed/33862140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2021.135896
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