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Article

Gaucher disease in Syrian children: common mutations identification, and clinical futures.

Annals of Saudi medicine - 1 Jan 2000

Alasmar Diana

Abstract excerpt

BACKGROUND AND OBJECTIVES: Gaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in spe.cific populations. The aim of this study was to analyze the characteristics of phenotypes and genotypes of GD in Syrian pediatric patients and assess whether a genotype-phenotype relationship could be...

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Identifiers

PMID: 26336018
DOI: 10.5144/0256-4947.2015.127
PMCID: PMC6074127

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Source receipt: pubmed, retrieved 7 Sept 2026.

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