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

Affiliations

¹ From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).
² From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.). jplatt@stanfordhealthcare.org.

Editorial

Chloe Reuter et al. Circ Cardiovasc Genet. 2017 Oct.

. 2017 Oct;10(5):e001918.

doi: 10.1161/CIRCGENETICS.117.001918.

¹ From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).
² From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.). jplatt@stanfordhealthcare.org.

No abstract available

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

Comment on

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P. Oder D, et al. Circ Cardiovasc Genet. 2017 Oct;10(5):e001691. doi: 10.1161/CIRCGENETICS.116.001691. Circ Cardiovasc Genet. 2017. PMID: 29018006 Clinical Trial.