Expanded-access use of elamipretide in a critically ill patient with Barth syndrome

Genet Med Open. 2024 Jun 22:2:101859. doi: 10.1016/j.gimo.2024.101859. eCollection 2024.

Amy C Goldstein^{1

2}, Cassandra Pantano^{1

2}, Mariya Redko¹, Laura E MacMullen¹, Katsuhide Maeda^{2

3}, Matthew J O'Connor^{2

4}

¹ Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
² Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
³ Pediatric Cardiothoracic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
⁴ Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.

No abstract available

Keywords: Barth syndrome; Cardiolipin; Cardiomyopathy; Elamipretide; Mitochondria.