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Article

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

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

Martin Rick A, Slaugh Rachel, Natowicz Marvin, Pearlman Kayla, Orvisky Eduard, Krasnewich Donna, Kleta Robert, Huizing Marjan, Gahl William A

Abstract excerpt

Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5. This gene encodes sialin, a lysosomal membrane transporter for sialic acid. Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the...

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PMID: 12794687
DOI: 10.1002/ajmg.a.10246

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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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Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.PMID 12794687Read ↗

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