La maladie de Fabry. Aspects cliniques et génétiques. Perspectives thérapeutiques
- 31 December 2000
- journal article
- abstracts
- Published by Elsevier in La Revue de Médecine Interne
- Vol. 21 (12), 1086-1103
- https://doi.org/10.1016/s0248-8663(00)00269-1
Abstract
No abstract availableKeywords
This publication has 66 references indexed in Scilit:
- Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A geneHuman Molecular Genetics, 1994
- Nucleotide sequence of the human α-galactosidase A geneNucleic Acids Research, 1989
- Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.Proceedings of the National Academy of Sciences, 1988
- Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.Proceedings of the National Academy of Sciences, 1986
- Fabry's Disease: Alpha-Galactosidase DeficiencyScience, 1970
- Tissue distribution of glycosphingolipids in a case of Fabry's diseaseJournal of Lipid Research, 1969
- Enzymatic Defect in Fabry's DiseaseNew England Journal of Medicine, 1967
- Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports.Acta Medica Scandinavica, 1947
- Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)Archives of Dermatological Research, 1898
- A CASE OF “ANGEIO-KERATOMA.”British Journal of Dermatology, 1898