La maladie de Fabry. Aspects cliniques et génétiques. Perspectives thérapeutiques
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Internal Medicine
Reference84 articles.
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3. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease : two autopsy reports;Pompen;Acta Med Scand,1947
4. Tissue distribution of glycosphingolipids in a case of Fabry’s disease;Schibanoff;J Lipid Res,1969
5. The genetics of angiokeratoma corporis diffusum (Fabry’s disease), and its linkage with Xg(a) locus;Opitz;Am J Hum Genet,1965
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2. Analysis of globotriaosylceramide (Gb 3 ) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry;Analytica Chimica Acta;2018-07
3. Fabry’s disease: an example of cardiorenal syndrome type 5;Heart Failure Reviews;2015-08-01
4. Fabry's disease;Journal of the Neurological Sciences;2014-09
5. Maladie de Fabry : une maladie du métabolisme par déficit d’une enzyme lysosomale (alpha-galactosidase), de transmission héréditaire liée au chromosome X accessible au traitement enzymatique de substitution;Revue du Rhumatisme Monographies;2011-09
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