Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Maladie de Fabry: du diagnostic a l'enzymotherapie substitutive. [Fabry disease: diagnostic due of substitutive enzyme-therapy]
Revue Médicale de la Suisse Romande
Case Reports English Abstract Journal Article --- Old month value: Sep
Fabry disease is a X-linked sphingolipid storage disorder resulting from the defective activity of the lysosomal enzyme, alpha-galactosidase A. Hemizygotes develop severe multisystemic disease, dominated by renal failure and progressive neurological and cardiac involvement, causing premature death. Thirty percent of heterozygotes have severe involvement of one or several organs. With developments in molecular biology, it is now possible to produce the human recombinant enzyme alpha-galactosidase A. More than 20 patients are now treated in Switzerland.
Biopsy Chromosomes, Human, X/genetics Fabry Disease/*diagnosis/drug therapy/genetics Galactosidases/blood/therapeutic use Humans Male Middle Aged Pedigree alpha-Galactosidase/blood/therapeutic use
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