作者@article {Koike1813 = {R。小池百合子和k·藤森和t .汤t . Miyatake和井上i t Saheki}, title = {Hyperornithinemia、hyperammonemia homocitrullinuria},体积={37}={11},页面= {1813 - 1813}= {1987},doi = {10.1212 / WNL.37.11.1813},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={两兄弟姐妹Hyperornithinemia、hyperammonemia homocitrullinuria报告。首页临床征象包括蛋白不耐受、精神发育迟滞、癫痫、昏迷的短片。一个病人小脑性共济失调,肌阵挛,抽搐发作,两腿肌肉无力。孤立肝线粒体在病人透露,鸟氨酸运输和瓜氨酸合成减少,但尿素循环酶和鸟氨酸转氨酶正常。鸟氨酸代谢在培养皮肤成纤维细胞减少。issn = {0028 - 3878}}, URL = {https://n.首页neurology.org/content/37/11/1813}, eprint = {//www.ez-admanager.com/content/37/11/1813.full.pdf},杂志={神经病学}}