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1 Ergebnisse
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Mitochondrial Carbonic Anhydrase VA Deficiency Resulting fr..:
van Karnebeek, Clara D.
;
Sly, William S.
;
Ross, Colin J.
...
The American Journal of Human Genetics. 94 (2014) 3 - p. 453-461 , 2014
Link:
https://doi.org/10.1016/j.ajhg.2014.01.006
RT Journal T1
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2014.01.006&Exemplar=1&LAN=DE A1 van Karnebeek, Clara D. A1 Sly, William S. A1 Ross, Colin J. A1 Salvarinova, Ramona A1 Yaplito-Lee, Joy A1 Santra, Saikat A1 Shyr, Casper A1 Horvath, Gabriella A. A1 Eydoux, Patrice A1 Lehman, Anna M. A1 Bernard, Virginie A1 Newlove, Theresa A1 Ukpeh, Henry A1 Chakrapani, Anupam A1 Preece, Mary Anne A1 Ball, Sarah A1 Pitt, James A1 Vallance, Hilary D. A1 Coulter-Mackie, Marion A1 Nguyen, Hien A1 Zhang, Lin-Hua A1 Bhavsar, Amit P. A1 Sinclair, Graham A1 Waheed, Abdul A1 Wasserman, Wyeth W. A1 Stockler-Ipsiroglu, Sylvia PB Elsevier BV YR 2014 SN 0002-9297 JF The American Journal of Human Genetics VO 94 IS 3 SP 453 OP 461 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2014.01.006 DO https://doi.org/10.1016/j.ajhg.2014.01.006 SF ELIB - SuUB Bremen
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