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Article

Novel form of intermediate salla disease: clinical and neuroimaging features.

Journal of child neurology - 1 Oct 2005

Morse Richard P, Kleta Robert, Alroy Joseph, Gahl William A

Abstract excerpt

The objective of this article is to describe the clinical, radiographic, and molecular genetic features of a new intermediate form of free sialic storage disease. Free sialic storage disease is a rare autosomal recessive lysosomal disorder that results from mutations in SLC17A5, a gene that codes for sialin, a lysosomal membrane sialic acid transporting protein. Infantile sialic acid storage disease has a severe...

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PMID: 16417876
DOI: 10.1177/08830738050200100601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel form of intermediate salla disease: clinical and neuroimaging features.PMID 16417876Read ↗

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