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新生儿遗传代谢病早期识别 被引量:5

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作者 封志纯
出处 《中国新生儿科杂志》 CAS 2009年第6期328-330,共3页 Chinese Journal of Neonatology
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参考文献15

  • 1Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the newborn. Arch Dis Child Fetal Neonatal Ed, 2001,84 : F205-F210.
  • 2Barbara K. Burton. Inborn errors of metabolism in infancy: A guide to diagnosis. Pediatrics, 1998,102 : e69.
  • 3Nissenkorn A, Michelson M, Ben-Ieev B, et al. Inborn errors of metabolism:a cause of abnormal brain development. Neurology, 2001,56 : 1265-1272.
  • 4Waiter JH. Inborn errors of metabolism and pregnancy. J Inherit Metab Dis ,2000,23:229-236.
  • 5SaudubrayJM, Nassogne MC, de Lonlay P, et al. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol,2002,7:3-15.
  • 6Martins AM. Inborn errors of metabolism:a clinical overview. Sao Paulo Med J, 1999,117:251-265.
  • 7Bachmann C. Mechanisms of hyperammonemia. Clin Chem Lab Med ,2002,40:653-662.
  • 8Gillis L,Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin North Am,2002, 49:203-219.
  • 9汪洪,姜兰,古丽鲜.甲基丙二酸血症一例[J].中国新生儿科杂志,2006,21(3):177-177. 被引量:3
  • 10黄玉春,张春花,李茹琴,庄兰春,程宪,郭惟.先天性遗传代谢病的早期诊断[J].新生儿科杂志,2005,20(3):101-103. 被引量:9

二级参考文献5

共引文献8

同被引文献53

  • 1常平,朱德新,胡艳群,封志纯,曾其毅.连续血液净化治疗先天性代谢缺陷病重症有机酸血症[J].小儿急救医学,2004,11(6):381-383. 被引量:7
  • 2李建国,黄建萍,肖慧捷,杨艳玲,杨霁云.甲基丙二酸尿症的肾脏损害五例报告[J].中华儿科杂志,2005,43(11):810-813. 被引量:14
  • 3张尧,宋金青,刘平,燕容,东锦华,杨艳玲,王兰凤,姜玉武,张月华,秦炯,吴希如.甲基丙二酸尿症合并同型半胱氨酸血症57例临床分析[J].中华儿科杂志,2007,45(7):513-517. 被引量:49
  • 4朱彦丽,吕凌云,杨健,李尔珍,王立文,张桂榛,许克铭,吴建新,张霆.甲基丙二酸血症患儿治疗前后的脑电图监测[J].中国实用儿科杂志,2007,22(7):520-522. 被引量:11
  • 5肖江喜.磁共振成像[M]//左启华.小儿神经系统疾病.2版.北京:人民卫生出版社,2002:123-178.
  • 6Filippi L, Gozzini E, Fiorini P, et al. N - carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria [J]. Neonatology ,2010 ,97 ( 3 ) : 286 - 290.
  • 7Martinelli D, Dotta A, Massella L, et al. Cobalamin C defect presenting as severe neonatal hyperammonemia[J]. Eur J Pediatr,2011, 170(7): 887 - 890.
  • 8Daniotti M, la Marca G, Fiorini P, et al. New developments in the treatment of hyperammonemia : Emerging use of carglumic acid [J]. Int J Gen Med,2011,4:21 -28.
  • 9Erez A, Nagamani SC, Lee B. Argininosucciate lyase deficiency - argininosuccinic aciduria and beyond [ J ]. Am J Med Genet C Semin Med Genet ,2011,157 (1) :45 - 53.
  • 10Jain - Ghai S, Nagamani SC, Blaser S, et al. Arginase I deficiency : Severe infangile presentation weth hyperammonemia: More common than reported [ J ] ? Mol Genet Metab,2011,104 ( 1 - 2) : 107 - 111.

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