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Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

OBJECTIVE—Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. Most of the patients with this disease were reported in Japan and therefore, this disease has not been well recognised outside...

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Hlavní autoři: Ikeda, S, Yazaki, M, Takei, Y, Ikegami, T, Hashikura, Y, Kawasaki, S, Iwai, M, Kobayashi, K, Saheki, T
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2001
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1737600/
https://ncbi.nlm.nih.gov/pubmed/11606680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.71.5.663
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