(Q42229179)

19 October 2017

N-Acetylneuraminic acid storage disease (English)

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19 October 2017

J Baumkötter

1

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19 October 2017

M Cantz

2

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19 October 2017

K Mendla

3

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19 October 2017

W Baumann

4

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19 October 2017

H Friebolin

5

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19 October 2017

J Gehler

6

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19 October 2017

J Spranger

7

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19 October 2017

1 January 1985

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19 October 2017

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19 October 2017

71

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19 October 2017

2

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19 October 2017

155-159

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https://scigraph.springernature.com/pub.10.1007/bf00283373

19 October 2017

0 references

cites work

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

1 reference

12 December 2020

Sialuria: an original metabolic disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

Sialidosis: a review of human neuraminidase deficiency

1 reference

12 December 2020

Accumulation of weak bases in relation to intralysosomal pH in cultured human skin fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Decreased ganglioside neuraminidase activity in fibroblasts from mucopolysaccharidosis patients. Inhibition of the activity in vitro by sulfated glycosaminoglycans and other compounds

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

Increased Urinary Excretion of Free N-Acetylneuraminic Acid in Thirteen Patients with Salla Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Specificity studies on the oligosaccharide neuraminidase of human fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00283373

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference