Article
[Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].
La Tunisie medicale - 1 Mar 2010
Ben Turkia Hadhami, Riahi Imène, Azzouz Hatem, Ladab Saloua, Cherif Wafa, Ben Chehida Amal, Abdelmoula Mohamed S, Caillaud Catherine, Chemli Jalel, Abdelhak Sonia, Tebib Néji, Ben Dridi Marie F
Abstract excerpt
BACKGROUND: Gaucher disease (GD) is a sphingolipidosis with heterogeneous phenotypic expression. The vital and / or functional prognosis may be threatened by an early visceral severe involvement in type 1 or a neurological degeneration in the more rarest neuroneupathic forms. The phenotypic and genotypic data regarding Gaucher disease are poorly known in Maghrebian countries; they are even less for pediatric...
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