“Idiopathic” pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

“Idiopathic” pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency

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...

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Bibliographic Details
Main Authors: Paquay Stephanie, Barrea Catherine, Sluysmans Thierry, Vachiery Jean-Luc, Loeckx Isabelle, Seneca Sara, Vô Christophe, Nassogne Marie-Cecile
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Annals of Pediatric Cardiology
Subjects:
Hyperglycinemia
lipoic acid
neurological regression
NFU1
pulmonary hypertension
Online Access:http://www.annalspc.com/article.asp?issn=0974-2069;year=2019;volume=12;issue=3;spage=325;epage=328;aulast=

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http://www.annalspc.com/article.asp?issn=0974-2069;year=2019;volume=12;issue=3;spage=325;epage=328;aulast=

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