(Q24673029)

1

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J Schleutker

2

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A P Laine

3

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M Renlund

4

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M L Savontaus

5

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C Dib

6

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L Peltonen

8

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P Aula

American Journal of Human Genetics

9

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language of work or name

English

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publication date

June 1994

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published in

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volume

54

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issue

6

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page(s)

1042-9

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cites work

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Strategies for multilocus linkage analysis in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

"Salla disease": a new lysosomal storage disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Blot hybridisation analysis of genomic DNA

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

A second-generation linkage map of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia 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=1918202

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918202

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

28 November 2018

1 reference

12 December 2020

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification

1 reference

12 December 2020

Human mitochondrial DNA types in Finland

1 reference

12 December 2020

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

1 reference

12 December 2020

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic and physical map of 11 short tandem repeat polymorphisms on human chromosome 6

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

Sialic acid metabolism in sialuria fibroblasts

1 reference

12 December 2020

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

12 December 2020