[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

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Article

[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

Journal de la Societe de biologie - 1 Jan 2002

Caillaud Catherine, Poenaru Livia

Abstract excerpt

Gaucher and Fabry's diseases are lysosomal storage disorders. They are due to glucocerebrosidase or alpha galactosidase deficiency, respectively. Gaucher disease, transmitted as an autosomal recessive trait, is frequent among Ashkenazi Jews. Cloning of the gene has allowed the characterization of few common mutations. Some of them have a prognosis value, in favour of either a non neurological form (type 1) or...

Topics

Alleles
Chromosomes, Human, Pair 1
DNA Mutational Analysis
Ethnicity
Fabry Disease
Female
Gaucher Disease
Genetic Carrier Screening
Genetic Counseling
Glucosylceramidase
Humans
Male
Mutation
Pedigree
Phenotype
Prognosis
X Chromosome
alpha-Galactosidase

Source

Open in PubMed

Identifiers

PMID: 12360742

Provenance

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