Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez, Carmen, Rüfenacht, Véronique, Santra, Saikat, Lund, Allan M., Santer, René, Lindner, Martin, Tangeraas, Trine, Unsinn, Caroline, de Lonlay, Pascale, Burlina, Alberto, van Karnebeek, ClLanguage:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2015.201
Date:
February, 2016
File:
PDF, 1.32 MB
english, 2016