Topics
alpha-galactosidase ABiomolecule
Fabry diseaseDisease
left ventricleAnatomical structure
mitral valveAnatomical structure
epidemiologyBook
neuropathyDisease
hypertrophyDisease
Fabry disease is one of the lysosomal storage disorders, that results from progressive multiorgan accumulation of glycoproteins. It is caused by mutations of the GLA gene, which encodes alpha-galactosidase A. The incidence of Fabry disease is estimated at the level of 1:55 000 male births, however the true prevalence, including atypical, sub-clinical or late-variant phenotypes may be higher. Typically, early manifestations of the disease, neuropathy and angiokeratomas, are evident by youth. Cardiac involvement results in left ventricle hypertrophy, although lysosomal deposits may lead to conduction disorders, coronary artery disease, aortic and mitral valve insufficien-cy. This review presents detailed description of Fabry disease pathophy...
PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. ...
Fabrys disease is a lysosomal storage disorder, caused due to mutation in the GLA gene in X-chromoso...
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency...
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-gal...
Pathogenesis: Fabry disease is an inherited lysosomal storage disorder caused by deficiency of the e...
Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficien...
Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alphagalactosidase A (GA...
WOS: 000418480100011PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipi...
Abstract Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A...
In patients with Fabry disease (FD), cardiovascular involvement is the main cause of death and reduc...
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-...
International audienceFabry disease is an X-linked progressive multisystemic genetic sphingolipidosi...
Fabry disease (FD, OMIM 301500) is a rare X-linked lysosomal storage disorder of the glycosphigolipi...
To access publisher's full text version of this article click on the hyperlink belowThe screening of...
[[abstract]]Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by al...
PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. ...
Fabrys disease is a lysosomal storage disorder, caused due to mutation in the GLA gene in X-chromoso...
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency...
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-gal...
Pathogenesis: Fabry disease is an inherited lysosomal storage disorder caused by deficiency of the e...
Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficien...
Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alphagalactosidase A (GA...
WOS: 000418480100011PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipi...
Abstract Background: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A...
In patients with Fabry disease (FD), cardiovascular involvement is the main cause of death and reduc...
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-...
International audienceFabry disease is an X-linked progressive multisystemic genetic sphingolipidosi...
Fabry disease (FD, OMIM 301500) is a rare X-linked lysosomal storage disorder of the glycosphigolipi...
To access publisher's full text version of this article click on the hyperlink belowThe screening of...
[[abstract]]Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by al...
PubMed ID: 28902648Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. ...
Fabrys disease is a lysosomal storage disorder, caused due to mutation in the GLA gene in X-chromoso...
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency...
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