Literature DB >> 27585510

Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease.

Ali J Marian1.   

Abstract

Keywords:  alpha-galactosidase A; causality; genetic testing; hypertrophic cardiomyopathy; loss of function

Mesh：

Substances：

Year:  2016        PMID： 27585510     DOI： 10.1016/j.jacc.2016.06.026

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  7 in total

Review 1.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

Review 2.  Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.

Authors:  Ali J Marian; Eva van Rooij; Robert Roberts
Journal:  J Am Coll Cardiol       Date:  2016-12-27       Impact factor: 24.094

Review 3.  Hypertrophic cardiomyopathy: genetics and clinical perspectives.

Authors:  Cordula Maria Wolf
Journal:  Cardiovasc Diagn Ther       Date:  2019-10

Review 4.  Role of PET to evaluate coronary microvascular dysfunction in non-ischemic cardiomyopathies.

Authors:  Paco E Bravo; Marcelo F Di Carli; Sharmila Dorbala
Journal:  Heart Fail Rev       Date:  2017-07       Impact factor: 4.214

5.  Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report.

Authors:  An-Yi Fu; Qi-Zhi Jin; Ya-Xun Sun
Journal:  World J Clin Cases       Date:  2022-01-21       Impact factor: 1.337

6.  Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

Authors:  Elena V Filatova; Natalia S Krylova; Ivan N Vlasov; Maria S Maslova; Natalia G Poteshkina; Petr A Slominsky; Maria I Shadrina
Journal:  Mol Genet Genomic Med       Date:  2021-10-01       Impact factor: 2.183

7.  Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed.

Authors:  Jagadish Jamboti; Cynthia H Forrest
Journal:  J Nephropathol       Date:  2017-02-05
  7 in total

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