Literature DB >> 2334213

Sialic acid storage disease.

P D Cameron1, V Dubowitz, G T Besley, A H Fensom.   

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.

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Year:  1990        PMID： 2334213      PMCID： PMC1792249          DOI： 10.1136/adc.65.3.314

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Sialuria: a second case.

Authors:  B Wilcken; N Don; R Greenaway; J Hammond; L Sosula
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  "Salla disease": a new lysosomal storage disorder.

Authors:  P Aula; S Autio; K O Raivio; J Rapola; C J Thodén; S L Koskela; I Yamashina
Journal:  Arch Neurol       Date:  1979-02

4.  Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.

Authors:  B D Lake; E P Young; K Nicolaides
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Authors:  R E Stevenson; M Lubinsky; H A Taylor; D A Wenger; R J Schroer; P M Olmstead
Journal:  Pediatrics       Date:  1983-10       Impact factor: 7.124

6.  Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.

Authors:  M Renlund; P T Kovanen; K O Raivio; P Aula; C G Gahmberg; C Ehnholm
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808
  6 in total
  2 in total

1.  Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Authors:  G M Mancini; C E Beerens; P P Aula; F W Verheijen
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

2.  Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Authors:  J Schleutker; P Leppänen; J E Månsson; A Erikson; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025
  2 in total

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