Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Kobayashi, 1999, The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein, Nat. Genet., 22, 159, 10.1038/9667 Ohura, 2001, Neonatal presentation of adult-onset type II citrullinemia, Hum. Genet., 108, 87, 10.1007/s004390000448 Tazawa, 2001, Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J. Pediatr., 138, 735, 10.1067/mpd.2001.113264 Tomomasa, 2001, Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy, J. Pediatr., 138, 741, 10.1067/mpd.2001.113361 Shigeta, 2009, Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor, Pediatr. Transplant., 14, E86, 10.1111/j.1399-3046.2009.01172.x Kasahara, 2001, Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor, Transplantation, 71, 157, 10.1097/00007890-200101150-00027 Takashima, 2002, Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation, Intern. Med., 41, 555, 10.2169/internalmedicine.41.555 Tamamori, 2002, Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation, Eur. J. Pediatr., 161, 609, 10.1007/s00431-002-1045-2 Ohura, 2007, Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), J. Inherit. Metab. Dis., 30, 139, 10.1007/s10545-007-0506-1 Yasuda, 2000, Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia, Hum. Genet., 107, 537, 10.1007/s004390000430 Yamaguchi, 2002, 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 for nine mutations, Hum. Mutat., 19, 122, 10.1002/humu.10022 Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J. Hum. Genet., 50, 338, 10.1007/s10038-005-0262-8 Ben-Shalom, 2002, Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids, Mol. Genet. Metab., 77, 202, 10.1016/S1096-7192(02)00167-1 Takaya, 2005, Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13, Metab. Clin. Exp., 54, 1615, 10.1016/j.metabol.2005.06.009 Luder, 2006, Citrullinaemia type 2 outside East Asia: Israeli experience, J. Inherit. Metab. Dis., 29, 59 Hutchin, 2006, Neonatal intrahepatic cholestasis caused by citirn deficiency (NICCD) in a European patient, J. Inherit. Metab. Dis., 29, 112 Sheng, 2006, Identification of a novel mutation in a Taiwanese patient with citrin deficiency, J. Inherit. Metab. Dis., 29, 163 Ko, 2007, Six cases of citrin deficiency in Korea, Int. J. Mol. Med., 20, 809 Tabata, 2008, Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency, J. Hum. Genet., 53, 534, 10.1007/s10038-008-0282-2 Bernard, 1998, Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes, Am. J. Pathol., 153, 1055, 10.1016/S0002-9440(10)65650-7 Gundry, 1999, Rapid F508del and F508C assay using fluorescent hybridization probes, Genet. Test., 3, 365, 10.1089/gte.1999.3.365 Saheki, 1987, Hereditary disorders of the urea cycle in man: biochemical and molecular approaches, Rev. Physiol. Biochem. Pharmacol., 108, 21, 10.1007/BFb0034071 Kobayashi, 1997, Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia, Hepatology, 25, 1160, 10.1002/hep.510250519 Tazawa, 2004, Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients, Mol. Genet. Metab., 83, 213, 10.1016/j.ymgme.2004.06.018 Fu, 2011, The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia, J. Gastroenterol., 46, 510, 10.1007/s00535-010-0329-y Kobayashi, 2003, Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations, Mol. Genet. Metab., 80, 356, 10.1016/S1096-7192(03)00140-9 Saheki, 2004, Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle, Mol. Genet. Metab., 81, S20, 10.1016/j.ymgme.2004.01.006 Lin, 2011, High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan, Clin. Chim. Acta, 412, 460, 10.1016/j.cca.2010.11.027 Shigematsu, 2002, Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan, J. Chromatogr. B Analyt. Technol. Biomed. Life Sci., 776, 39, 10.1016/S1570-0232(02)00077-6 Yazaki, 2005, Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2), Intern. Med., 44, 188, 10.2169/internalmedicine.44.188 Takahashi, 2006, A case of adult-onset type II citrullinemia—deterioration of clinical course after infusion of hyperosmotic and high sugar solutions, Med. Sci. Monit., 12, CS13