First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominan...
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be addressed, especially in patients...
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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
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TN_cdi_doaj_primary_oai_doaj_org_article_32902ced1c8e4bb1bbc4d3d837bed829
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_32902ced1c8e4bb1bbc4d3d837bed829
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-020-01071-5
