Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides (Q24633782)

1

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C E Beerens

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P P Aula

3

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F W Verheijen

Journal of Clinical Investigation

4

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language of work or name

English

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publication date

April 1991

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published in

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volume

87

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issue

4

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page(s)

1329-35

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cites work

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

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

7 April 2017

1 reference

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Sialic acid storage disease

7 April 2017

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

7 April 2017

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Identification of the metabolic defect in sialuria

7 April 2017

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"Salla disease": a new lysosomal storage disorder

7 April 2017

1 reference

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Amino acid transport systems of lysosomes: possible substitute utility of a surviving transport system for one congenitally defective or absent

7 April 2017

1 reference

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Alteration of intracellular traffic by monensin; mechanism, specificity and relationship to toxicity

27 September 2017

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Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo

27 September 2017

1 reference

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

27 September 2017

1 reference

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N-Acetylneuraminic acid storage disease

30 May 2018

1 reference

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

30 May 2018

1 reference

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Infantile type of sialic acid storage disease with sialuria.

30 May 2018

1 reference

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Free sialic acid storage disease. A new Italian case.

30 May 2018

1 reference

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Cysteamine therapy for children with nephropathic cystinosis

30 May 2018

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Genetic evidence for transmembrane acetylation by lysosomes

30 May 2018

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Separate and shared lysosomal transport of branched and aromatic dipolar amino acids

30 May 2018

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

30 May 2018

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

30 May 2018

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Purification and characterization of human lysosomes from EB-virus transformed lymphoblasts

30 May 2018

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Nephrosis in two siblings with infantile sialic acid storage disease.

28 November 2018

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Possible Locations for a Common Gene Product in Membrane Transport of Imino-acids and Glycine

28 November 2018

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12 December 2020

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

1 reference

12 December 2020

A rapid and simplified method for the preparation of lysosomal membranes from rat liver

1 reference

12 December 2020

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term treatment of infantile nephropathic cystinosis with cysteamine

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12 December 2020

Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children

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

Salla disease in one non-Finnish patient

1 reference

12 December 2020

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

1 reference

12 December 2020

Infantile sialic acid storage disease in two siblings

1 reference

12 December 2020

What are the requisites for a model transport analog?

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

Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses

1 reference

12 December 2020

release_fcdiosg5cvdanek3qeo6li4ljm

Identifiers

DOI

10.1172/JCI115136

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fcdiosg5cvdanek3qeo6li4ljm

24 November 2022