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Article

Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.

Journal of inherited metabolic disease - 1 Jan 1992

Paschke E, Gruber W, Ring E, Sperl W

Abstract excerpt

We analysed urine and tissue specimens from two nephrotic infantile sialic acid storage disease patients (nISSD) for free and bound sialic acids in comparison to non-nephrotic ISSD patients (ISSD), patients with minimal change nephrosis (nControl) and normal controls (Control). No differences in the excretion of urinary free sialic acid could be detected between ISSD and nISSD urines. Sialyloligosaccharide...

Topics

Glycosaminoglycans
Humans
Infant
Lysosomal Storage Diseases
Nephrotic Syndrome
Oligosaccharides
Phenotype
Sialic Acids
Sialoglycoproteins
Tissue Distribution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1583876
DOI: 10.1007/BF01800343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1583876-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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