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...

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主要な著者:	Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2025-07-01
シリーズ:	JIMD Reports
主題:	leukocytes lysosomal storage disorders Salla disease sialic acid sialin SLC17A5
オンライン･アクセス:	https://doi.org/10.1002/jmd2.70029
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