6Kobayashi 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.
7Ohura T, Kobayashi K, Tazawa Y, et al. Neonatal presentation of adult-onset type Ⅱ citrullinernia. Hum Genet, 2001,108: 87-90.
8Lu YB, Kobayashi K, Tabata UA, et al. Frequency and distribution in East Asia of 12 mutation identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet, 2005, 50:338-346.
9Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J Chromatogr B Biomed Sci Appl, 1999, 731:141-147.
10Chen HW, Chen HL, Ni YH, et al. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. J Pediatr Gastroenterol Nutr, 2008, 47 : 187-192.
