Molecular damage in Fabry disease: Characterization and prediction of alpha-galactosidase A pathological mutations-Reference-Cited by-同舟云学术

Molecular damage in Fabry disease: Characterization and prediction of alpha-galactosidase A pathological mutations

Published:2014-11-18 Issue:1 Volume:83 Page:91-104
ISSN:0887-3585
Container-title:Proteins: Structure, Function, and Bioinformatics
language:en
Short-container-title:Proteins

Author:

Riera Casandra¹,Lois Sergio¹,Domínguez Carmen²³,Fernandez-Cadenas Israel⁴⁵⁶,Montaner Joan⁵⁶,Rodríguez-Sureda Victor²³,de la Cruz Xavier¹⁷

Affiliation:

1. Research Unit in Translational Bioinformatics; Institut de Recerca Hospital Vall d'Hebron (VHIR); Universitat Autònoma de Barcelona; Barcelona Spain

2. Biochemistry and Molecular Biology Research Centre for Nanomedicine; Institut de Recerca Hospital Vall d'Hebron; Barcelona Spain

3. Centre for Biomedical Research on Rare Diseases (CIBERER); Instituto de Salud Carlos III; Barcelona Spain

4. Stroke Pharmacogenomics and Genetics; Fundació Docencia i Recerca Mutua Terrassa; Terrassa Spain

5. Neurovascular Research Laboratory; Institut de Recerca Hospital Vall d'Hebron; Barcelona Spain

6. Neurovascular Unit; Department of Neurology; Universitat Autònoma de Barcelona; Hospital Universitari Vall d'Hebron; Barcelona Spain

7. Institució Catalana de Recerca i Estudis Avançats (ICREA); Barcelona Spain

Funder

Ministerio de Economía y Competitividad

Ministerio de Sanidad, Servicios Sociales e Igualdad

EUSTROKE 7FP Health

Ministerio de Ciencia e InnovaciÃ³n

Spanish stroke research network (INVICTUS)

Vall d'Hebron Institute of Research (VHIR)

Publisher

Wiley

Subject

Molecular Biology,Biochemistry,Structural Biology

Reference67 articles.

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2. Enzyme replacement therapy in fabry disease: a randomized controlled trial;Schiffmann;JAMA,2001

3. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies;Eng;Am J Hum Genet,2001

4. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey;Mehta;J Med Genet,2009

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