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Article

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.

Pediatric neurology - 1 Nov 2023

Chapleau Alexandra, Mirchi Amytice, Tran Luan T, Poulin Chantal, Bernard Geneviève

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla...

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PMID: 37713976
DOI: 10.1016/j.pediatrneurol.2023.08.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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