"Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

• Main Authors: Paquay Stephanie (Author), Barrea Catherine (Author), Sluysmans Thierry (Author), Vachiery Jean-Luc (Author), Loeckx Isabelle (Author), Seneca Sara (Author), Vô Christophe (Author), Nassogne Marie-Cecile (Author)
• Format: Knjiga
• Izdano: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

NFU1 deficiency is a rare metabolic disorder affecting iron-sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent featu...