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有机酸代谢病的高危筛查 被引量:6

High Risk Screening on Disorder of Organic Acid Metabolism
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作者 杨艳玲
出处 《继续医学教育》 2006年第17期35-39,共5页 Continuing Medical Education
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参考文献12

  • 1William L.Nyhan,Pinar t.Ozand.organic acidemias.In:Atlas of metabolic diseases[M].Chaptman & Hall,London,1998.1-93.
  • 2Chalmers RA.Disorders of organic acid metabolism.The inherited metabolic diseases[M].London:Chuchill livingstone,1987.141-214.
  • 3山口清次 清水信雄 渡边宏雄.有机酸代谢异常症の发症时期与预后[J].日本小儿科学会志,1992,96:1058-1064.
  • 4Kenneth F.Swaiman.Aminoacidopathies and or ganic acidemias resulting from deficiency of enzyme activity and transport abnomalities.Pediatric Neurology.principle & practice[M].3th edition.Mosby,Inc.1999.377-410.
  • 5杨艳玲,山口清次,田上泰子,张月华,姜玉武,包新华,吴晔,秦炯,李明,钱宁,吴希如,付晓巍,木村正彦,花井润师,福士胜,戚豫.有机酸尿症71例临床分析[J].北京大学学报(医学版),2002,34(3):214-218. 被引量:39
  • 6Georg F.Hoffmann,William L.Nyhan,Johannes Zschocke,et al.Organic acid analysis:Approach to the diagnosis of organic acidurias.In:Inherited meta bolic diseases[M].Philadelphia:Lippincott Williams & Wilkins,2002.319-327.
  • 7Xiaowei Fu,Misago Iga,Masahiko Kimura.Simplified screening for organic acidemias using GC/MS and dried urine filter paper:a study on neonatal mass screening[J].Early Human Development,2000,58:41-55.
  • 8高柳正树.有机酸血症の食事疗法[J].小儿内科,1994,26:126-131.
  • 9杨艳玲,张月华,袁向东,戚豫,张致祥,秦炯,孙德荣,顾强,米春兰.甲基丙二酸血症的诊断与治疗分析[J].中华围产医学杂志,2000,3(1):30-32. 被引量:46
  • 10杨艳玲,张月华,姜玉武,冯琪,续岩,戚豫,潘虹,张致祥,秦炯,吴希如,山口清次,付晓巍,田上泰子,花井润师,福士胜.六例丙酸血症的诊断和治疗分析[J].中华儿科杂志,2001,39(3):170-171. 被引量:11

二级参考文献21

  • 1宁聪 方红 熊密.二羧酸尿症一例[J].中华儿科杂志,1990,28:303-303.
  • 2Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Peidatrics, 1998, 102: 1-9.
  • 3Lehotay DC, Clarke JT. Organic aeidurias and related abnormalities.Crit Rev Clin Lab Sci, 1995, 32: 377-429.
  • 4Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J Chromat.B, 1999, 731: 141-147.
  • 5Fu XW, Iga M, Kimura M. Simplified screening for organic acidemias using GC/MS and dried urine filter paper: a study on neonatal mass screening. Early Human Development, 2000, 58:41-55.
  • 6Chace DH, DiPema JC, Mitchell BL, et al. Electmspray tandem mass spectrometry for analysis of acylcamitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem, 2001,47:1166-1182.
  • 7Scriver CR, Beaudet AL, Sly WS, et al (eds). The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill, 2001.1-100.
  • 8Tanaka K, Budd MA, Efron ML, et al. Isovaleric aiademia: a new genetic defect of leucine metabolism. Proc Nail Acad Sci USA,1966,56 : 236-242.
  • 9Zhang C,J Chromatogr B,2000年,746卷,41页
  • 10吴希如,小儿神经系统疾病基础与临床,2000年,131页

共引文献194

同被引文献38

  • 1王立文.新生儿有机酸血症筛查[J].中国医刊,2004,39(10):10-12. 被引量:5
  • 2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:62
  • 3陈黎,陈淑丽,李若馨,肖志田,付丹,廖建湘.有机酸血症5例[J].实用儿科临床杂志,2006,21(8):479-480. 被引量:5
  • 4宋力,孟英韬,张玉琴,郭静,党利亨,单忠敏.小儿遗传代谢缺陷病的筛查诊断[J].天津医药,2006,34(11):759-761. 被引量:14
  • 5韩连书,高晓岚,叶军,邱文娟,王瑜,顾学范.串联质谱技术在有机酸血症鉴别诊断中的应用[J].临床儿科杂志,2006,24(12):970-974. 被引量:36
  • 6Kobayashi H,Haseqawa Y,Endo M,et al.ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders[J].J Chromatogr B Analyt Technol Biomed Life Sci,2007,855(1):80-87.
  • 7Hori D,Hasegawa Y,Kimura M,et al.Clinical onset and prognosis of Asian children with organic acidemias,as detected by analysis of urinary organic acids using GC/MS,instead of mass screening[J].Brain Dev,2005,27(1):39-45.
  • 8Kuhara T.Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine,isotope dilution,and gas chroma tographymass spectrometry[J].J Chromatogr B,2002,781(1-2):497-517.
  • 9Shinka T,Inoue Y,Yoshino M,et al.Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening[J].J Chromatogr B,2002,776(1):65-70.
  • 10Yorifuji T,Kawai M,Muroi J,et al.Unexpectedly high prevalence of the mild form of propionic acidemia in Japan:Presence of a common mutation and possible clinical implications[J].Hum Genet,2002,111(2):161-165.

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二级引证文献19

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