Bibliotecas PUC-SP - Busca Integrada

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

Por Amy C. Goldstein, Cassandra Pantano, Mariya Redko, Laura E. MacMullen, Katsuhide Maeda, Matthew J. O’Connor
Publicado no Genetics in Medicine Open (2024-01-01)

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Por Laura E. MacMullen, Elizabeth Reynolds, Marissa Weis, Ibrahim George-Sankoh, Sara Nguyen, Katelynn D. Stanley, Mariya Redko, Maria Poblete, Amy C. Goldstein, Rebecca D. Ganetzky
Publicado no Orphanet Journal of Rare Diseases (2025-08-01)