The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation (Q24538902)

5 July 2017

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation (English)

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genotype-phenotype correlation

5 July 2017

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Aula N

1

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5 July 2017

Salomäki P

2

1 reference

5 July 2017

Timonen R

3

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5 July 2017

Verheijen F

4

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5 July 2017

Mancini G

5

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5 July 2017

Månsson JE

6

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5 July 2017

Aula P

7

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5 July 2017

Peltonen L

8

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5 July 2017

language of work or name

English

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publication date

17 August 2000

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American Journal of Human Genetics

5 July 2017

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5 July 2017

67

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5 July 2017

4

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5 July 2017

832-840

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Basic local alignment search tool

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

"Salla disease": a new lysosomal storage disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Molecular genetics of the Finnish disease heritage.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

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.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Molecular background of the Finnish disease heritage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

The Finnish population structure A genetic and genealogical study

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Free sialic acid storage disease. A new Italian case.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287888

Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland

30 May 2018

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder

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12 December 2020

Salla disease--rare or underdiagnosed?

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12 December 2020

Identifiers

DOI

10.1086/303077

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5 July 2017

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5 July 2017

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