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戊二酸尿症一例报告 被引量:2

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出处 《中国优生与遗传杂志》 2007年第6期126-126,共1页 Chinese Journal of Birth Health & Heredity
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参考文献2

  • 1SeymourCA,Thomason MJ,Chalmers RA,et al.Newborn Screening for inborn errors of metabolism:a systematic review[J].Health Technol Assess,1977,1:i-iv,1-95.
  • 2Kafil-Hussain NA,Monavari A,Bowell R,et al.Ocular findings in glutaric aciduria tyoe[J].J Pediatr Ophthalmol Strabismus,2000,37(5):289-293.

同被引文献29

  • 1钟乐,杨于嘉,罗芳,孙吉平,余小河.Ⅰ型戊二酸尿症一例[J].中华儿科杂志,2004,42(7):557-557. 被引量:7
  • 2刘丽英,邹丽萍,肖静,方方,王旭.伴有硬膜下积液的戊二酸尿症-Ⅰ型1例[J].中国当代儿科杂志,2005,7(1):82-83. 被引量:5
  • 3韩连书,高晓岚,叶军,邱文娟,顾学范.串联质谱技术在有机酸血症筛查中的应用研究[J].中华儿科杂志,2005,43(5):325-330. 被引量:64
  • 4齐朝月,宋金青,肖江喜,谢晟,杨艳玲,张尧,孙芳,秦炯,吴希如.戊二酸血症I型患者的临床与脑磁共振成像特点[J].中国医刊,2006,41(7):26-29. 被引量:10
  • 5Goodman SI,Markey SP,Moe PG,et al.Glutaric aciduria:a "new" disorder of amino acid metabolism[J].Biochem Med,1975,12:12-21.
  • 6Fernández-Lainez C,Aguilar-Lemus JJ,Vela-Amieva M,et al.Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism:abnormal profile interpretation[J].Curt Med Chem,2012,19:4511-4522.
  • 7Kimura M,Yamamoto T,Yamaguchi S.Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening:a personal computer-based system[J].Tohoku J Exp Med,1999,188:317-334.
  • 8Wang Q,Li X,Ding Y,et al.Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1[J].Brain Dev,2013,9.doi:10.1016/j.braindev,2013,11:006.
  • 9K(o)lker S,Christensen E,Leonard JV,et al.Diagnosis and management of glutaric aciduria type Ⅰ-revised recommendations[J].J Inherit Metab Dis,2011,34:677-694.
  • 10Strauss KA,Puffenberger EG,Robinson DL,et al.Type Ⅰ glutaric aciduria,part 1:natural history of 77 patients[J].Am J Med Genet C Semin Med Genet,2003,121:38-52.

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