Article
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Advances in rheumatology (London, England) - 6 Jan 2020
Rosa Neto Nilton Salles, Bento Judith Campos de Barros, Pereira Rosa Maria Rodrigues
Abstract excerpt
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and interpretation may change in light of evolving knowledge. Similar...
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