Status and frontiers of Fabre disease
Status and frontiers of Fabre disease
About this item
Full title
Author / Creator
Chu, Wei , Chen, Min , Lv, Xiaoqin , Lu, Sheng , Wang, Changyan , Yin, Limin , Qian, Linyan and Shi, Jiana
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplement...
Alternative Titles
Full title
Status and frontiers of Fabre disease
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2ff878e5f49f47b49c39d42db40fe02e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2ff878e5f49f47b49c39d42db40fe02e
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-025-03646-y
