Literature DB >> 1817039

Sialic acid storage disorders: observations on clinical and biochemical variation.

G M Mancini1, F W Verheijen, C E Beerens, M Renlund, P Aula.   

Abstract

Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.

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Year:  1991        PMID： 1817039     DOI： 10.1159/000112181

Source DB:  PubMed          Journal:  Dev Neurosci        ISSN： 0378-5866            Impact factor:   2.984


  6 in total

1.  The lysosomal sialic acid transporter sialin is required for normal CNS myelination.

Authors:  Laura M Prolo; Hannes Vogel; Richard J Reimer
Journal:  J Neurosci       Date:  2009-12-09       Impact factor: 6.167

2.  The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Authors:  L Haataja; J Schleutker; A P Laine; M Renlund; M L Savontaus; C Dib; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

3.  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

4.  Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Authors:  G M Mancini; P Hu; F W Verheijen; O P van Diggelen; H C Janse; W J Kleijer; F A Beemer; F G Jennekens
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183

Review 5.  Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases.

Authors:  Estera Rintz; Takashi Higuchi; Hiroshi Kobayashi; Deni S Galileo; Grzegorz Wegrzyn; Shunji Tomatsu
Journal:  Mol Ther Methods Clin Dev       Date:  2021-11-24       Impact factor: 6.698

6.  Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Authors:  R Biancheri; A Rossi; H A Verbeek; R Schot; F Corsolini; S Assereto; G M S Mancini; F W Verheijen; C Minetti; M Filocamo
Journal:  Neurogenetics       Date:  2005-09-17       Impact factor: 2.660
  6 in total

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