|
[1]PALMIERI F.Mitochondrial transporters of the SLC25 family and associated diseases:A review[J].J Inherit Metab Dis, 2014, 37 (4) :565-575.
|
|
[2]LIN WX, ZENG HS, ZHANG ZH, et al.Molecular diagnosis of pediatric patients with citrin deficiency in China:SLC25A13mutation spectrum and the geographic distribution[J].Sci Rep, 2016, 6:29732.
|
|
[3]TAMAMORI A, OKANO Y, OZAKI H, et al.Neonatal intrahepatic cholestasis caused by citrin deficiency:Severe hepatic dysfunction in an infant requiring liver transplantation[J].Eur JPediatr, 2002, 161 (11) :609-613.
|
|
[4]CAINE Y, DECKELBAUM RJ, WEIZMAN Z, et al.Congenital hepatic fibrosis-unusual presentations[J].Arch Dis Child, 1984, 59 (11) :1094-1096.
|
|
[5]YASUDA T, YAMAGUCHI N, KOBAYASHI K, et al.Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type IIcitrullinemia[J].Hum Genet, 2000, 107 (6) :537-545.
|
|
[6]KOBAYASHI K, SINASAC DS, IIJIMA M, et al.The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein[J].Nat Genet, 1999, 22 (2) :159-163.
|
|
[7]PALMIERI F.The mitochondrial transporter family SLC25:I-dentification, properties and physiopathology[J].Mol Aspects Med, 2013, 34 (2-3) :465-484.
|
|
[8]ZHANG ZH, LIN WX, DENG M, et al.Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J].PLo SOne, 2014, 9 (2) :e89267.
|
|
[9]JIANG GY, CHENG ZM, LIU KS.Neonatal intrahepatic cholestasis caused by citrin deficiency:A histopathologic study of 10 cases[J].Chin J Pathol, 2012, 41 (7) :452-455. (in Chinese) 蒋光愉, 程兆明, 刘凯珊.新生儿citrin缺陷肝内胆汁淤积症的肝脏病理组织学观察[J].中华病理学杂志, 2012, 41 (7) :452-455.
|
|
[10]KIMURA A, KAGE M, NAGATA I, et al.Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency[J].Hepatol Res, 2010, 40 (4) :295-303.
|
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