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pro vyhledávání: '"Filip Gallant"'
Autor:
Ann Van Loo, David Cassiman, Wouter Meersseman, Hans Schepkens, Filip Gallant, Wim Terryn, Gert De Schoenmakere, Steven Brabant, Thomas Malfait, Johannes Häberle
Publikováno v:
Case Reports in Internal Medicine. 2
Ornithine transcarbamylase (OTC) deficiency is the most frequent innate urea cycle disorder (UCD) and is the only one with an X-linked inheritance. OTC deficiency leads to hyperammonemia and subsequent elevated cerebral pressure and brain damage. Mos