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Article

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

American journal of hematology - 1 Apr 2009

Taddei Tamar H, Kacena Katherine A, Yang Mei, Yang Ruhua, Malhotra Advitya, Boxer Michael, Aleck Kirk A, Rennert Gadi, Pastores Gregory M, Mistry Pramod K

Abstract excerpt

Mutations in GBA1 gene that encodes lysosomal glucocerebrosidase result in Type 1 Gaucher Disease (GD), the commonest lysosomal storage disorder; the most prevalent disease mutation is N370S. We investigated the heterogeneity and natural course of N370S GD in 403 patients. Demographic, clinical, and genetic characteristics of GD at presentation were examined in a cross-sectional study. In addition, the relative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19260119
DOI: 10.1002/ajh.21362
PMCID: PMC3008404

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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