Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report

• Autores principales: Shyam S. Kothari (Autor), Jayal Shah (Autor), Vishal Sharma (Autor), Riyaz Charaniya (Autor), Rujuta Parikh (Autor), Salil N. Vaniawala (Autor)
• Formato: Libro
• Publicado: BMC, 2024-08-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in...