Article
[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].
Anales espanoles de pediatria - 1 Mar 2001
Castelló Girona F, Domínguez Luengo C, del Toro Riera M, Chabás Bergon A
Abstract excerpt
Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days....
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