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Sialic acid storage disease.

Authors :
Cameron PD
Dubowitz V
Besley GT
Fensom AH
Source :
Archives of disease in childhood [Arch Dis Child] 1990 Mar; Vol. 65 (3), pp. 314-5.
Publication Year :
1990

Abstract

A baby girl with coarse facial features, hepatosplenomegaly, and developmental delay had raised free sialic acid concentrations in her urine and cultured fibroblasts. She died aged 13 months. Sialic acid is an important constituent of many glycoproteins and glycolipids; impaired release from the lysosome may be the underlying biochemical defect.

Subjects

Subjects :
Female
Humans
Infant, Newborn
Carbohydrate Metabolism, Inborn Errors diagnosis
Sialic Acids metabolism

Details

Language :
English
ISSN :
1468-2044
Volume :
65
Issue :
3
Database :
MEDLINE
Journal :
Archives of disease in childhood
Publication Type :
Academic Journal
Accession number :
2334213
Full Text :
https://doi.org/10.1136/adc.65.3.314
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