Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing-Reference-Cited by-同舟云学术

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

Published:2016-04 Issue:4 Volume:145 Page:507-513
ISSN:0002-9173
Container-title:American Journal of Clinical Pathology
language:en
Short-container-title:Am J Clin Pathol

Author:

Brión María,de Castro López María José,Santori Montserrat,Pérez Muñuzuri Alejandro,López Abel Bernardo,Baña Souto Ana María,Martínez Soto María Isabel,Couce María Luz

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

http://academic.oup.com/ajcp/article-pdf/145/4/507/6651559/aqw025.pdf

Reference23 articles.

1. Barth syndrome

2. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

3. Barth syndrome

4. The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years

5. A novel X-linked gene, G4.5. is responsible for Barth syndrome

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1. Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion;Biology;2023-09-14

2. Therapeutic targeting of cardiolipin composition in injury and disease using TPP-conjugated compounds;Clinical Bioenergetics;2021

3. A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population;The Journal of Pediatrics;2020-02

4. TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome;Gene;2020-02

Barth syndrome: mechanisms and management

;The Application of Clinical Genetics;2019-06