Diez-Fernandez, Carmen
Rüfenacht, Véronique
Santra, Saikat
Lund, Allan M.
Santer, René
Lindner, Martin
Tangeraas, Trine http://orcid.org/0000-0003-3137-2117
Unsinn, Caroline
de Lonlay, Pascale
Burlina, Alberto
van Karnebeek, Clara D.M.
Häberle, Johannes
This article is maintained by: Elsevier
Article Title: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/gim.2015.201
Content Type: article
Copyright: © 2016, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics