Literature DB >> 30224878

Fabry Disease Diagnosis in a Young Stroke Patient: A Case Report.

Aslı Aksoy Gündoğdu1, Dilcan Kotan1, Murat Alemdar1, Zeynep Özözen Ayas1.   

Abstract

Entities:  

Year:  2018        PMID： 30224878      PMCID： PMC6138235          DOI： 10.5152/npa.2017.19189

Source DB:  PubMed          Journal:  Noro Psikiyatr Ars        ISSN： 1300-0667            Impact factor:   1.339


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  8 in total

Review 1.  Neurological manifestations in Fabry's disease.

Authors:  Anette T Møller; Troels S Jensen
Journal:  Nat Clin Pract Neurol       Date:  2007-02

2.  Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

Authors:  Arndt Rolfs; Tobias Böttcher; Marlies Zschiesche; Peter Morris; Bryan Winchester; Peter Bauer; Uwe Walter; Eilhard Mix; Mathias Löhr; Klaus Harzer; Ulf Strauss; Jens Pahnke; Annette Grossmann; Reiner Benecke
Journal:  Lancet       Date:  2005-11-19       Impact factor: 79.321

3.  CNS manifestations of Fabry's disease.

Authors:  Andreas Fellgiebel; Matthias J Müller; Lionel Ginsberg
Journal:  Lancet Neurol       Date:  2006-09       Impact factor: 44.182

4.  High incidence of later-onset fabry disease revealed by newborn screening.

Authors:  Marco Spada; Severo Pagliardini; Makiko Yasuda; Turgut Tukel; Geetha Thiagarajan; Hitoshi Sakuraba; Alberto Ponzone; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2006-04-28       Impact factor: 11.025

5.  Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Authors:  Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Robert Dobrovolny; Ai-Chu Huang; Hui-Ying Yeh; May-Chin Chao; Shio-Jean Lin; Teruo Kitagawa; Robert J Desnick; Li-Wen Hsu
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

6.  Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

Authors:  A Mehta; R Ricci; U Widmer; F Dehout; A Garcia de Lorenzo; C Kampmann; A Linhart; G Sunder-Plassmann; M Ries; M Beck
Journal:  Eur J Clin Invest       Date:  2004-03       Impact factor: 4.686

7.  Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.

Authors:  Katherine Sims; Juan Politei; Maryam Banikazemi; Philip Lee
Journal:  Stroke       Date:  2009-01-15       Impact factor: 7.914

8.  Clinical profile of stroke in 900 patients with hypertrophic cardiomyopathy.

Authors:  Barry J Maron; Iacopo Olivotto; Pietro Bellone; Maria Rosa Conte; Franco Cecchi; Björn P Flygenring; Susan A Casey; Thomas E Gohman; Sergio Bongioanni; Paolo Spirito
Journal:  J Am Coll Cardiol       Date:  2002-01-16       Impact factor: 24.094
  8 in total

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