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Am J Med Genet A. 2003 Jul 1;120A(1):23-7.

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

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1
Division of Medical Genetics, Department of Pediatrics, St. Louis Children's Hospital, Washington University, St. Louis, MO 63110, USA. martin_r@kids.wustl.edu

Abstract

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 first reported American cases of Salla disease.

PMID:
12794687
DOI:
10.1002/ajmg.a.10246
[Indexed for MEDLINE]
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