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Article

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

American journal of medical genetics. Part A - 1 Jul 2003

Kleta Robert, Aughton David J, Rivkin Michael J, Huizing Marjan, Strovel Erin, Anikster Yair, Orvisky Eduard, Natowicz Marvin, Krasnewich Donna, Gahl William A

Abstract excerpt

The differential diagnosis of developmental delays and growth retardation in early childhood includes the allelic lysosomal sialic acid storage disorders, Salla disease and infantile free sialic acid storage disease (ISSD). These diseases, due to defective free sialic acid transport out of lysosomes, derive from mutations in the SLC17A5 gene coding for the protein sialin. We present two patients with clinical,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 12794688
DOI: 10.1002/ajmg.a.20024

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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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