Concepedia

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Carmen Dı́ez-Fernández, Véronique Rüfenacht, Saikat Santra, Allan M. Lund, René Santer, Martin Lindner, Trine Tangeraas, Caroline Unsinn, Pascale de Lonlay, Alberto Burlina,

Genetics in Medicine · 2016 · 54 citations · 27 references

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References

27

Crystal structure of the catalytic domain of the tumor-associated human carbonic anhydrase IX

Vincenzo Alterio, Mika Hilvo, Anna Di Fiore et al. · Proceedings of the National Academy of Sciences · 2009 · 519 citations · Full text

, , +17

The incidence of urea cycle disorders

Marshall Summar, Stefan Koelker, Debra Freedenberg et al. · Molecular Genetics and Metabolism · 2013 · 322 citations · Full text

, , +4

A SIMPLIFIED MICROMETHOD FOR THE DETERMINATION OF CARBONIC ANHYDRASE AND ITS INHIBITORS

Thomas H. Maren · Journal of Pharmacology and Experimental Therapeutics · 1960 · 322 citations

, , +9

N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Susan E. Lewis, Robert P. Erickson, Lois B. Barnett et al. · Proceedings of the National Academy of Sciences · 1988 · 159 citations · Full text

, , +16

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 109 citations

, , +15