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

出版年份 2018 全文链接

标题

作者

关键词

Glomerular filtration rate, Proteinuria, Chronic kidney disease, Enzyme replacement therapy, White blood cells, Echocardiography, Nonsense mutation, Electrocardiography

出版物

PLoS One

Volume 13, Issue 4, Pages e0193550

出版商

Public Library of Science (PLoS)

发表日期

2018-04-06

DOI

10.1371/journal.pone.0193550

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