Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
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Published:2016-10
Issue:10
Volume:18
Page:991-1000
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Diez-Fernandez Carmen,
Rüfenacht Véronique,
Santra Saikat,
Lund Allan M.,
Santer René,
Lindner Martin,
Tangeraas TrineORCID,
Unsinn Caroline,
de Lonlay Pascale,
Burlina Alberto,
van Karnebeek Clara D.M.,
Häberle Johannes
Subject
Genetics (clinical)
Cited by
35 articles.
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