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. (Q35644366)

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scientific article published on October 1995

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English	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.	scientific article published on October 1995

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

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. (English)

1 reference

Europe PubMed Central

9 August 2017

1 reference

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author name string

Schleutker J

1

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Europe PubMed Central

9 August 2017

Leppänen P

2

1 reference

Europe PubMed Central

9 August 2017

Månsson JE

3

1 reference

Europe PubMed Central

9 August 2017

Erikson A

4

1 reference

Europe PubMed Central

9 August 2017

Weissenbach J

5

1 reference

Europe PubMed Central

9 August 2017

Peltonen L

6

1 reference

Europe PubMed Central

9 August 2017

Aula P

7

1 reference

Europe PubMed Central

9 August 2017

language of work or name

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publication date

1 October 1995

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Europe PubMed Central

9 August 2017

American Journal of Human Genetics

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Europe PubMed Central

9 August 2017

57

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Europe PubMed Central

9 August 2017

4

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Europe PubMed Central

9 August 2017

893-901

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Europe PubMed Central

9 August 2017

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

1 reference

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Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1 reference

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High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

1 reference

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

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Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

1 reference

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27 July 2018

The genetic contribution to the phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Free sialic acid storage disease. A new Italian case.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Sialic acid storage disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

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27 July 2018

A second-generation linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

"Salla disease": a new lysosomal storage disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

27 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801488

25 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Salla disease (sialuria, Finnish type). New clinical presentation in the 1st Argentine report]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7573051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

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