Literature DB >> 23378663

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

M Brady1, E Montgomery2, P Brennan3, R Mohindra2, J A Sayer3.   

Abstract

Mesh:

Year:  2013        PMID: 23378663     DOI: 10.1093/qjmed/hct024

Source DB:  PubMed          Journal:  QJM        ISSN: 1460-2393


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  2 in total

1.  The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.

Authors:  K Savostyanov; A Pushkov; I Zhanin; N Mazanova; S Trufanov; A Pakhomov; A Alexeeva; D Sladkov; A Asanov; A Fisenko
Journal:  Orphanet J Rare Dis       Date:  2022-05-16       Impact factor: 4.303

2.  Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

Authors:  Sarah McCloskey; Paul Brennan; John A Sayer
Journal:  F1000Res       Date:  2018-03-22
  2 in total

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