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Autor:
Chloe Miu Mak, G. W.-K. Poon, G. C.-F. Chan, Sidney Tam, N.-S. Kwong, Lck Low, KY Lau, Tak-Shing Siu, CW Lam, K.-Y. Wong, Nelson L.S. Tang, SK Li
Publikováno v:
Journal of inherited metabolic disease. 30(6)
Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal an