A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant
Contrib Nephrol
.
2001;(136):234-40.
doi: 10.1159/000060194.
Author
D P Germain
1
Affiliation
1
Clinical Genetics Unit, Hôpital Européen Georges Pompidou, Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr
PMID:
11688386
DOI:
10.1159/000060194
No abstract available
Publication types
Case Reports
MeSH terms
Adult
Cardiomyopathies / etiology*
Fabry Disease / classification
Fabry Disease / complications*
Fabry Disease / genetics*
Humans
Male
Phenotype
alpha-Galactosidase / genetics
Substances
alpha-Galactosidase