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...

Description complète

Détails bibliographiques

Auteurs principaux:	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
Langue:	Inglês
Publié:	Wiley 2025-07-01
Collection:	JIMD Reports
Sujets:	leukocytes lysosomal storage disorders Salla disease sialic acid sialin SLC17A5
Accès en ligne:	https://doi.org/10.1002/jmd2.70029
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!