A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review

Infantile sialic acid storage disorder (ISSD) represents the most severe form of free sialic acid storage disease (FSASD), a rare lysosomal storage disorder caused by mutations in SLC17A5, which encodes the lysosomal sialic acid transporter sialin. These mutations lead to the accumulation of free si...

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Auteurs principaux:	Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, Francesca Faravelli, Marina Martinez Popple, Maria Cristina Schiaffino, Annalisa Madeo, Alessandro La Rosa
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2025-12-01
Collection:	Molecular Genetics and Metabolism Reports
Sujets:	Infantile sialic acid storage disorder SLC17A5 Hyporegenerative anemia Brain MRI Hypomyelination Neuroimaging
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2214426925000990
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