Prevalence of Fabry disease-causing variants in the UK Biobank
Prevalence of Fabry disease-causing variants in the UK Biobank
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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More information
Scope and Contents
Contents
BackgroundFabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement. Global prevalence estimates of Fabry disease based on clinical ascertainment range from 1 in 40...
Alternative Titles
Full title
Prevalence of Fabry disease-causing variants in the UK Biobank
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10086508
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10086508
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2022-108523
