title: A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.
authors.forename: F
authors.initials: F
authors.lastname: Cotton
authors.forename: P
authors.initials: P
authors.lastname: Bianchi
authors.forename: A
authors.initials: A
authors.lastname: Zanella
authors.forename: N
authors.initials: N
authors.lastname: Van Den Bogaert
authors.forename: A
authors.initials: A
authors.lastname: Ferster
authors.forename: V
authors.initials: V
authors.lastname: Hansen
authors.forename: I
authors.initials: I
authors.lastname: Van Herreweghe
authors.forename: F
authors.initials: F
authors.lastname: Vertongen
authors.forename: B
authors.initials: B
authors.lastname: Gulbis
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics / Q000628:therapy; D004912:Erythrocytes / Q000201:enzymology; D005078:Exchange Transfusion, Whole Blood; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000235:genetics*; D008297:Male; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase