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Article

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.

Biochimica et biophysica acta - 5 Jun 1991

Van Weely S, Van Leeuwen M B, Jansen I D, De Bruijn M A, Brouwer-Kelder E M, Schram A W, Sa Miranda M C, Barranger J A, Petersen E M, Goldblatt J

Abstract excerpt

We have investigated several parameters of glucocerebrosidase in cultured skin fibroblasts from patients with various clinical phenotypes of Gaucher disease. In this study no strict correlation was found between the clinical manifestations of Gaucher disease and the parameters investigated in fibroblasts. These parameters included the specific activity of the enzyme in extracts towards natural lipid and...

Topics

Cathepsin D
Cells, Cultured
Centrifugation, Density Gradient
Electrophoresis, Polyacrylamide Gel
Fibroblasts
Gaucher Disease
Glucosylceramidase
Glucosylceramides
Humans
Immunoblotting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Temperature

beta-N-Acetylhexosaminidases

Source

Identifiers

PMID: 1829642
DOI: 10.1016/0925-4439(91)90066-i

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1829642-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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