A novel mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.
Cotton
F
F
Bianchi
P
P
Zanella
A
A
Van Den Bogaert
N
N
Ferster
A
A
Hansen
V
V
Van Herreweghe
I
I
Vertongen
F
F
Gulbis
B
B
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*
D011770:Pyruvate Kinase