Fabry's disease-Reference-Cited by-同舟云学术

Fabry's disease

Published:2014-09 Issue:1-2 Volume:344 Page:5-19
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

El-Abassi Rima,Singhal Divya,England John D.

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference294 articles.

1. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease;Ishii;Biochem Biophys Res Commun,1993

2. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease;Sakuraba;Am J Hum Genet,1990

3. Small fiber dysfunction predominates in Fabry neuropathy;Dutsch;J Clin Neurophysiol,2002

4. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene;Bernstein;J Clin Invest,1989

5. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone;Shimotori;Hum Mutat,2008

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