Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease-Reference-Cited by-同舟云学术

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Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease

Published:2014-02 Issue:2 Volume:535 Page:365-369
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Duro Giovanni,Musumeci M. Beatrice,Colomba Paolo,Zizzo Carmela,Albeggiani Giuseppe,Mastromarino Vittoria,Volpe Massimo,Autore Camillo

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference19 articles.

1. Genetic screening of Fabry patients with EcoTILLING and HRM technology;Bono;BMC Res. Not.,2011

2. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper;Chamoles;Clin. Chim. Acta,2001

3. α-Galactosidase A deficiency: Fabry disease;Desnick,2001

4. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population;Dobrovolny;J. Mol. Med.,2005

5. ACES study group, Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease survey;Elliott;Heart,2011

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1. Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease;Texas Heart Institute Journal;2022-09-01

2. The Many Faces of Arterial Hypertension in Hypertrophic Cardiomyopathy and Its Phenocopies: Bystander, Consequence, Modifier;High Blood Pressure & Cardiovascular Prevention;2021-04-27

3. Pulse‐cancellation echocardiography in Fabry disease diagnosis;Echocardiography;2020-05-23

4. Functional evaluation of a novel GLA causative mutation in Fabry disease;Molecular Genetics & Genomic Medicine;2019-07-18

5. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease;BMC Medical Genetics;2018-12

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