(Q54326569)

27 May 2018

title

Nephrosis in two siblings with infantile sialic acid storage disease. (English)

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27 May 2018

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W Sperl

1

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27 May 2018

W Gruber

2

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27 May 2018

J Quatacker

3

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27 May 2018

L Monnens

4

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27 May 2018

W Thoenes

5

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27 May 2018

F M Fink

6

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27 May 2018

E Paschke

7

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27 May 2018

publication date

1 April 1990

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27 May 2018

European Journal of Pediatrics

published in

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27 May 2018

volume

149

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27 May 2018

issue

7

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27 May 2018

page(s)

477-482

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27 May 2018

https://scigraph.springernature.com/pub.10.1007/bf01959399

exact match

0 references

cites work

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

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12 December 2020

Congenital ascites as a presenting sign of lysosomal storage disease

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12 December 2020

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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Identification of a major sialoprotein in the glycocalyx of human visceral glomerular epithelial cells

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

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12 December 2020

A severe infantile sialidosis: clinical, biochemical, and microscopic features

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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

Ultrastructural alterations in the sialic acid distribution in minimal change disease and membranous glomerulonephritis

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12 December 2020

Decrease in the sialoglycoprotein content of the glomerular basement membrane in experimental nephrosis

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12 December 2020

Proteinuria in a child with sialidosis: case report and histological studies

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12 December 2020

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

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12 December 2020

Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype

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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

A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study

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12 December 2020

Molecular Basis of Proteinuria of Glomerular Origin

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12 December 2020

Infantile type of sialic acid storage disease with sialuria.

1 reference

12 December 2020

Alterations in the sialic acid content of the rat glomerular filter in aminonucleoside nephrosis

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12 December 2020

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

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12 December 2020

N-Acetylneuraminic acid storage disease

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12 December 2020

Nephrotic syndrome and hypertension in two children with Hurler syndrome

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12 December 2020

Acid alpha-neuraminidase deficiency: a nephropathic phenotype?

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

Demonstration of sialic acid groups in the glomerular basement membrane of the rat with phosphotungstic acid at low pH.

1 reference

12 December 2020

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

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

Identifiers

DOI

10.1007/BF01959399

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27 May 2018

PubMed ID

2347341

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27 May 2018