Literature DB >> 29018007

Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

Chloe Reuter1, Julia Platt2.   

Abstract

Entities:  

Keywords:  Editorials; Fabry disease; cardiology; diagnosis; genetics; humans

Mesh：

Substances：

Year:  2017        PMID： 29018007     DOI： 10.1161/CIRCGENETICS.117.001918

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  2 in total

1.  Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Authors:  L Lavalle; A S Thomas; B Beaton; H Ebrahim; M Reed; U Ramaswami; P Elliott; A B Mehta; D A Hughes
Journal:  PLoS One       Date:  2018-04-05       Impact factor: 3.240

2.  Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.

Authors:  Eliza Jeanette McConnell; James Every; Michel Tchan; Rebecca Kozor
Journal:  Eur Heart J Case Rep       Date:  2018-12-07
  2 in total

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