Literature DB >> 3806663

Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.

P Aula, M Renlund, K O Raivio, S L Koskela.   

Abstract

Urinary oligosaccharides were screened with thin-layer chromatography among 1058 mentally retarded patients of a geographically defined area with an approximate population of 200,000. Aspartylglucosaminuria was detected in 26 cases and Salla disease in 24 cases. All patients with aspartylglucosaminuria had the correct diagnosis before the screening, whereas two new cases of Salla disease were detected. No other inherited metabolic diseases were found. The results demonstrate the accuracy of the TLC method, and indicate a high gene frequency of those two lysosomal storage diseases in the population of northern Finland.

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Year:  1986        PMID： 3806663     DOI： 10.1111/j.1365-2788.1986.tb01332.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


  7 in total

1.  Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

Authors:  J Schleutker; L Haataja; M Renlund; L Puhakka; J Viitala; L Peltonen; P Aula
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

2.  Spectrum of mutations in aspartylglucosaminuria.

Authors:  E Ikonen; P Aula; K Grön; O Tollersrud; R Halila; T Manninen; A C Syvänen; L Peltonen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205

3.  The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Authors:  N Aula; P Salomäki; R Timonen; F Verheijen; G Mancini; J E Månsson; P Aula; L Peltonen
Journal:  Am J Hum Genet       Date:  2000-08-17       Impact factor: 11.025

4.  Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Authors:  J Schleutker; P Sistonen; P Aula
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

5.  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

6.  Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.

Authors:  K Grön; P Aula; L Peltonen
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

7.  Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Authors:  E Ikonen; M Baumann; K Grön; A C Syvänen; N Enomaa; R Halila; P Aula; L Peltonen
Journal:  EMBO J       Date:  1991-01       Impact factor: 11.598
  7 in total

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