Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy-Reference-Cited by-同舟云学术

Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy

Published:2012-03-19 Issue:2 Volume:126 Page:77-97
ISSN:0001-6314
Container-title:Acta Neurologica Scandinavica
language:en
Short-container-title:

Author:

Bersano A.¹,Lanfranconi S.²,Valcarenghi C.²,Bresolin N.²,Micieli G.¹,Baron P.²

Affiliation:

1. Department of Emergency Neurology; IRCCS C. Mondino National Institute of Neurology Foundation; Pavia; Italy

2. Department of Neurological Sciences; Dino Ferrari Centre; IRCCS Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena Foundation; University of Milan; Milan; Italy

Publisher

Wiley

Subject

Neurology (clinical),Neurology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.2012.01661.x/fullpdf

Reference136 articles.

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2. Enzymatic defect in Fabry disease ceramidetrihexosidase deficiency;Brady;N Engl J Med,1967

3. Biochemical and molecular genetic basis of Fabry disease;Pastores;J Am Soc Nephrol,2002

4. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease;Schäfer;Hum Mutat,2005

5. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females;MacDermot;J Med Genet,2001

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