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Article

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.

Molecular genetics and metabolism - 1 Jan 2007

Sobreira Elisa, Pires Ricardo F, Cizmarik Marta, Grabowski Gregory A

Abstract excerpt

Type 1 Gaucher disease, the most common lysosomal storage disorder, results from deficiency of glucocerebrosidase causing pathologic accumulation of glucocerebroside. The disease is characterized by marked variation in age of onset and degree of anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. Most published data on Gaucher disease come from populations with large proportions of...

Topics

Adolescent
Adult
Brazil
Child
Cohort Studies
Female
Gaucher Disease
Genetic Heterogeneity
Genotype
Glucosylceramidase
Humans
Jews

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Phenotype

Source

Identifiers

PMID: 16996765
DOI: 10.1016/j.ymgme.2006.08.009

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