Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype-Reference-Cited by-同舟云学术

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

Published:2020-02 Issue:2 Volume:129 Page:150-160
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Azevedo Olga,Gal Andreas,Faria Rui,Gaspar Paulo,Miltenberger-Miltenyi Gabriel,Gago Miguel F.,Dias Fátima,Martins Alice,Rodrigues Jorge,Reimão Pedro,Pereira Olga,Simões Sónia,Lopes Emilia,Guimarães Maria José,Sousa Nuno,Cunha Damião

Funder

Shire Human Genetic Therapies, Inc

Shire Human Genetic Therapies

Amicus

Sanofi Genzyme

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference33 articles.

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2. High incidence of later-onset Fabry disease revealed by newborn screening;Spada;Am. J. Hum. Genet.,2006

3. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males;MacDermot;J. Med. Genet.,2001

4. Mild left ventricular hypertrophy unravels a novel nonsense mutation of the GLA gene associated with the classical phenotype of Fabry disease;Azevedo;Cardiology,2017

5. Prevalence of uncontrolled hypertension in patients with Fabry disease;Kleinert;Am. J. Hypertens.,2006

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