(Q41828201)

12 October 2017

Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease (English)

1 reference

12 October 2017

1 reference

Mendla K

1

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12 October 2017

Baumkötter J

2

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12 October 2017

Rosenau C

3

1 reference

12 October 2017

Ulrich-Bott B

4

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12 October 2017

Cantz M

5

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12 October 2017

language of work or name

English

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publication date

1 February 1988

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12 October 2017

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12 October 2017

250

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12 October 2017

1

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12 October 2017

261-267

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Protein measurement with the Folin phenol reagent

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Specificity studies on the oligosaccharide neuraminidase of human fibroblasts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

N-Acetylneuraminic acid storage disease

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Stable thiobarbituric acid chromophore with dimethyl sulphoxide. Application to sialic acid assay in analytical de-O-acetylation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Two species of lysosomal organelles in cultured human fibroblasts

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

"Salla disease": a new lysosomal storage disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Sialidosis: a review of human neuraminidase deficiency

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148842

Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism

18 August 2018

1 reference

12 December 2020

N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes

1 reference

12 December 2020

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane

1 reference

12 December 2020

Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts

1 reference

12 December 2020

N-acetylneuraminic acid accumulation in a buoyant lysosomal fraction of cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease

1 reference

12 December 2020

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

12 December 2020

Studies on the chemical and enzymatic modification of glycoproteins. A general method for the tritiation of sialic acid-containing glycoproteins

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ2500261

1 reference

12 October 2017

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12 October 2017

1 reference