Anadiotis G, Ierardi-Curto L, Kaplan P B, Berry G T
Division of Endocrinology/Diabetes and Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, 19104, USA.
J Pediatr. 2001 Jan;138(1):123-4. doi: 10.1067/mpd.2001.109792.
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
我们描述了一名患有Y202H鸟氨酸转氨甲酰酶缺乏基因突变的男性患者,该患者在采用低蛋白饮食、服用瓜氨酸和苯丁酸钠时发生了胰腺炎。