5Gregouy M, Enns S, Susan A, et al. Survival after Treatment with Phenylacetate and Benzoate for Urea-Cydle disorders. N Engl J Med ,2007,356: 2282-2283.
6Vivian E. Shih alternative-pathway therapy for hyperammonemia. N Engl J Med ,2007,356:2321-2322.
7Roe CR, Ding JH. Mitochondrial fatty acid oxidation disorders. In:Scriver CR, Beaudet AL, Sly, WS, David Valle, et al. The Metabolic and Molecu- lar Bases of Inherited Disease. 8th ed. New York: Mc Graw-Hill Inc, 2003. 2297 -2326.
8Chen YT. Defects in metabolism of carbobydrates. In : Behman RE, Kliegman RM ,Jenson HB, et al. Nelson Textbook of Pediatrics. 16th ed. Philadelphia: W. B. Saunders ,2000. 405-420.
3Nyhan WL, Ozand PT, eds. Atlas of metabolic diseases. London: Chapman & Hill Medical, 1998. 167-187.
4Matsuda I, Nagata N, Matsuura T, et al. Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. Am J Med Genet, 1991, 38: 85-89.
5Maruyama H, Ogawa M, Nishio T, et al. Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. J Neurol Sci, 2001, 182: 167-170.
6Nagata N, Matsuda I, Matsuura T, et al. Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies. Am J Med Genet, 1991, 40: 477-481.
7Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type Ⅱ citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet, 1999, 22: 159-163.
8Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet, 2002, 47: 333-341.
9Yamaguchi N, Kobayashi K, Yasuda T. et al. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods fo
10Pridmore CL, Clarke JT, Blaser S. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J Child Neurol, 1995, 10: 369-374.
