|
[1]KOBAYSHI K, USHIKAI M, SONG YZ, et al.Overview of citrin deficiency:SLC25A13 mutations and the frequency[J].J Appl Clin Pediatr, 2008, 23 (20) :1553-1557.
|
|
[2]SONG YZ, LI BX, HAO H, et al.Selective screening for inborn errors of metabolism and secondary methylmalonicaciduria in pregnancy at high risk district of neural tube defects:a human metabolome study by GC-MS in China[J].Clin Biochem, 2008, 41 (7-8) :616-620.
|
|
[3]SONG YZ, USHIKAI M, KOBAYASHI K, et al.Citrin deficiency is an important etiology for cholestatic liver disease in children[J].Chin J Pediatr, 2009, 47 (8) :624-627. (in Chinese) 宋元宗, 牛饲美晴, 小林圭子, 等.小儿胆汁淤积性肝病的病因学特征[J].中华儿科杂志, 2009, 47 (8) :624-627.
|
|
[4]SONG YZ, HAO H, USHIKAI M, et al.A difficult and complicated case study:neonatal intrahepatic cholestasis caused by citrin deficiency[J].Chin J Contemp Pediatr, 2006, 8 (2) :125-128. (in Chinese) 宋元宗, 郝虎, 牛饲美晴, 等.疑难病研究-Citrin缺陷导致的新生儿肝内胆汁淤积症[J].中国当代儿科杂志, 2006, 8 (2) :125-128.
|
|
[5]SAHEKI T, KOBAYASHI K.Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset typeⅡcitrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) [J].J Hum Genet, 2002, 47 (7) :333-341.
|
|
[6]KIMURA A, KAGE M, NAGATA I, et al.Histological findings in the rivers of patients with neonatal intrahepatie cholcstasis caused by citrin deficiency[J].Hepatol Res, 2010, 40 (4) :295-303.
|
|
[7]SAHEKI T, KOBAYASHI K, IIJIMA M, et al.Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate—glutamate carrier[J].Hepatol Res, 2005, 33 (2) :181-184.
|
|
[8]OHURAT, KOBAYASHI K, TAZAWA Y, et al.Clinical pictures of 75patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J].J Inherit Metab Dis, 2007, 30 (2) :139-144.
|
|
[9]CHEN HW, CHEN HL, NI YH, et al.Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatie cholestasis caused by citrin deficiency[J].J Pediatr Gastroenterol Nutr, 2008, 47 (2) :187-192.
|
|
[10]SONG YZ, LI BX, CHEN FP, et al.Neonatal intrahepatic cholestasis caused by citrin deficiency:clinical and laboratory investigation of 13subjects in mainland of China[J].Dig Liver Dis, 2009, 41 (9) :683-689.
|
|
[11]SONG YZ, KEIKO K.Citrin Deficiency[J].J Appl Clin Pediatr, 2008, 23 (20) :1564-1565. (in Chinese) 宋元宗, 小林圭子.Citrin缺陷病[J].实用儿科临床杂志, 2008, 23 (20) :1564-1565.
|
|
[12]ZENG J, LIU L, PENG MZ, et al.Acylcarnitine spectrum analysis of the neonatal intrahepatic cholestasis caused by citrin deficiency[J].J Clin Pediatr, 2012, 30 (9) :801-804. (in Chinese) 曾军, 刘丽, 彭敏芝, 等.Citrin蛋白缺陷所致新生儿肝内胆汁淤积症酰基肉碱谱分析[J].临床儿科杂志, 2012, 30 (9) :801-804.
|
|
[13]DING J, WEN PQ, YIN LF, et al.Urine screen analysis of 27 cases with neonatal intrahepatic cholestasis caused by citrin defects[J].China Med Herald, 2012, 9 (16) :174-176. (in Chinese) 丁娟, 温鹏强, 尹莉芳, 等.27例citrin缺陷导致的新生儿肝内胆汁淤积症尿筛查分析[J].中国医药报导, 2012, 9 (16) :174-176.
|
|
[14]XING YZ, QIU WJ, YE J, et al.Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatie cholestasis caused by citrin deficiency[J].Chin J Med Genet, 2010, 27 (2) :180-185. (in Chinese) 邢雅智, 邱文娟, 叶军, 等.Citrin缺陷导致的新生儿肝内胆汁淤积症临床和SLC25A13基因突变的研究[J].中华医学遗传学杂志, 2010, 27 (2) :180-185.
|
|
[15]WEN PQ, WANG GB, CHEN ZL, et al.SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency[J].Chin J Contempor Pediatr, 2011, 13 (4) :303-308. (in Chinese) 温鹏强, 王国兵, 陈占玲, 等.Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因分析[J].中国当代儿科杂志, 2011, 13 (4) :303-308.
|
|
[16]TAMAMORI A, OKANO Y, OZAKI H, et al.Neonatal intrahepatic cholestasis caused by citrin deficiency:Severe hepatic dysfunction in an infant requifing liver transplantation[J].Eur J Pediatr, 2002, 161 (11) :609-613.
|
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