(Q41883056)

13 October 2017

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

1 reference

Infantile free sialic acid storage disease

13 October 2017

0 references

1 reference

1

1 reference

13 October 2017

Andersson HC

2

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13 October 2017

Seppala R

series ordinal

3

1 reference

13 October 2017

Tietze F

series ordinal

4

1 reference

13 October 2017

Gahl WA

series ordinal

5

1 reference

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

1 reference

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

1 reference

13 October 2017

1 reference

13 October 2017

1 reference