Clinical presentation and natural history of Barth Syndrome: An overview-Reference-Cited by-同舟云学术

Clinical presentation and natural history of Barth Syndrome: An overview

Published:2021-08-15 Issue:1 Volume:45 Page:7-16
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Taylor Carolyn¹,Rao Emily S.²,Pierre Germaine³,Chronopoulou Estathia³,Hornby Brittany⁴,Heyman Andrea⁵,Vernon Hilary J.⁶^ORCID

Affiliation:

1. Department of Pediatrics, Division of Cardiology, Children's Hospital Medical University of South Carolina Charleston South Carolina USA

2. Department of Pediatrics, Division of Hematology Johns Hopkins University School of Medicine Baltimore Maryland USA

3. Department of Inherited Metabolic Disease, Division of Women's and Children's Services University Hospitals Bristol NHS Foundation Trust Bristol UK

4. Department of Physical Therapy Kennedy Krieger Institute Baltimore Maryland USA

5. Department of Nutrition Kennedy Krieger Institute Baltimore Maryland USA

6. Department of Genetics Johns Hopkins University School of Medicine Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12422

Reference76 articles.

1. A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population

2. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

3. Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

4. Cardiolipin Stabilizes Respiratory Chain Supercomplexes

5. Role of cardiolipin alterations in mitochondrial dysfunction and disease

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