Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement
Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement
About this item
Full title
Author / Creator
Iorio, Annamaria , Lucà, Fabiana , Pozzi, Andrea , Rao, Carmelo Massimiliano , Chimenti, Cristina , Di Fusco, Stefania Angela , Rossini, Roberta , Caretta, Giorgio , Cornara, Stefano , Giubilato, Simona , Di Matteo, Irene , Di Nora, Concetta , Pilleri, Anna , Gelsomino, Sandro , Ceravolo, Roberto , Riccio, Carmine , Grimaldi, Massimo , Colivicchi, Furio , Oliva, Fabrizio , Gulizia, Michele Massimo , the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO) and Management and Quality Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to...
Alternative Titles
Full title
Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement
Authors, Artists and Contributors
Author / Creator
Lucà, Fabiana
Pozzi, Andrea
Rao, Carmelo Massimiliano
Chimenti, Cristina
Di Fusco, Stefania Angela
Rossini, Roberta
Caretta, Giorgio
Cornara, Stefano
Giubilato, Simona
Di Matteo, Irene
Di Nora, Concetta
Pilleri, Anna
Gelsomino, Sandro
Ceravolo, Roberto
Riccio, Carmine
Grimaldi, Massimo
Colivicchi, Furio
Oliva, Fabrizio
Gulizia, Michele Massimo
the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)
Management and Quality Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_17bd80c730874a9bb9f84fb35bd8dc03
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_17bd80c730874a9bb9f84fb35bd8dc03
Other Identifiers
ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics14020208
