Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts (Q41883056)

13 October 2017

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts (English)

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Infantile free sialic acid storage disease

13 October 2017

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1

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13 October 2017

Andersson HC

2

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13 October 2017

Seppala R

series ordinal

3

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13 October 2017

Tietze F

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4

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13 October 2017

Gahl WA

series ordinal

5

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13 October 2017

language of work or name

English

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publication date

1 June 1990

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13 October 2017

5

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inferred from page(s)

published in

Biochemical Journal

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13 October 2017

268

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13 October 2017

3

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13 October 2017

621-625

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

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Chemistry, metabolism, and biological functions of sialic acids.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Measurement of protein using bicinchoninic acid

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Infantile type of sialic acid storage disease with sialuria.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Biosynthesis of N-glycolyneuraminic acid. The primary site of hydroxylation of N-acetylneuraminic acid is the cytosolic sugar nucleotide pool

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Lysosomal membrane transport in cellular nutrition

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

"Salla disease": a new lysosomal storage disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

The permeability of rat liver lysosomes to sugars. Evidence for carrier-mediated facilitated diffusion

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Sugar transport in rat liver lysosomes. Direct demonstration by using labelled sugars

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

ATP-dependent lysosomal cystine efflux is defective in cystinosis

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1131484

Characterization of carrier-mediated transport systems for small neutral amino acids in human fibroblast lysosomes

18 August 2018

1 reference

12 December 2020

Detection and characterization of a nucleoside transport system in human fibroblast lysosomes.

1 reference

12 December 2020

Transport of N-acetyl-D-glucosamine and N-acetyl-D-galactosamine by rat liver lysosomes

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

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ2680621

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13 October 2017

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13 October 2017

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