Maladie de Fabry: du diagnostic a l'enzymotherapie substitutive. [Fabry disease: diagnostic due of substitutive enzyme-therapy]
Details
Serval ID
serval:BIB_4FB6E730B695
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Maladie de Fabry: du diagnostic a l'enzymotherapie substitutive. [Fabry disease: diagnostic due of substitutive enzyme-therapy]
Journal
Revue Médicale de la Suisse Romande
ISSN
0035-3655 (Print)
Publication state
Published
Issued date
09/2002
Volume
122
Number
9
Pages
449-53
Language
french
Notes
Case Reports English Abstract Journal Article --- Old month value: Sep
Abstract
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.
Keywords
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
Pubmed
Create date
25/01/2008 13:55
Last modification date
20/08/2019 15:05
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