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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Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2025-07-01
Col·lecció:	JIMD Reports
Matèries:	leukocytes lysosomal storage disorders Salla disease sialic acid sialin SLC17A5
Accés en línia:	https://doi.org/10.1002/jmd2.70029
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