期刊文献+

四氢生物喋呤缺乏症的研究进展 被引量:1

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作者 高宏 喻唯民
出处 《中日友好医院学报》 2001年第5期295-298,共4页 Journal of China-Japan Friendship Hospital
  • 相关文献

参考文献22

  • 1Liu TT, Chiang YH, Chian SH, et al. Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations(226C>T. IVS3 + 1G>A. 116-119delTGTT)in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency [J]. Hum Mutat, 2001(in press).
  • 2Yu WM, Liu TT, Chang M, et al. The study of tetrahydrobiopterin deficiency in northern Chinese with hyperphenytalaninemia[J]. J Inherit Metab Dis, 2000,23(Suppl. 1):43.
  • 3叶军,刘晓青,马燮琴,黄晓东,张雅芬,顾学范,陈瑞冠.中国南方四氢生物蝶呤缺乏症筛查、临床及基因突变的系列研究[J].中华医学遗传学杂志,2001,18(2):92-95. 被引量:19
  • 4Thony B,Heizmann CW, Mattei MG. Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11 q22.3-q23.3 and pterin-4 alpha-carbinolamine dehydratase maps to 10q22[J]. Genomics, 1994,19(2):365-368.
  • 5Burgisser DM,Thony B,Redweik U,et al. 6-Pyruvoyl tetrahydropterin synthase an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic triad motif;site-directed mutagenesis of the proposed active center.Characterization of the metal binding site and modeling of substrate binding[J]. J Mol Biol, 1995,253(2): 358-369.
  • 6Thony B, Leimbacher W,Blau N,et al. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl tetrahydropterin synthase[J]. Am J Hum Genet, 1994,54(5): 782-792.
  • 7刘晓青,刘孜孜,萧广仁,张眉,张雅芬,叶军,陈瑞冠,顾学范.非经典型苯丙酮尿症的基因突变检测[J].中华医学遗传学杂志,1997,14(6):351-353. 被引量:7
  • 8Liu TT,Hsiao KJ. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency[J]. Hum Genet, 1996,98(3):313-316.
  • 9刘晓青,萧广仁,顾学范,刘孜孜,张雅芬,叶军,张眉,陈瑞冠.6-丙酮酰-四氢生物蝶呤合成酶缺陷基因的一种新型错义突变[J].中华医学遗传学杂志,1999,16(5):342-342. 被引量:1
  • 10Liu TT, Lu SF, Hsiao KJ,et al. Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and a T/C polymorphism detected in Chinese[J]. J Biomed Lab Sei, 1998, 10(1): 39-47.

二级参考文献11

  • 1顾学范,韩连书,高晓岚,杨艳玲,叶军,邱文娟.串联质谱技术在遗传性代谢病高危儿童筛查中的初步应用[J].中华儿科杂志,2004,42(6):401-404. 被引量:144
  • 2叶军,陈瑞冠.四氢生物蝶呤缺乏症的诊断和治疗进展[J].国外医学(儿科学分册),1993,20(4):169-172. 被引量:9
  • 3叶军,国外医学.儿科学分册,1993年,20卷,4期,169页
  • 4陈瑞冠,实用儿科杂志,1988年,3卷,4期,170页
  • 5Liu T T,Hum Mutat,1998年,11卷,1期,76页
  • 6Liu T T,Hum Genet,1996年,98卷,3期,313页
  • 7叶军,国外医学.儿科分册,1993年,20卷,4期,169页
  • 8Blau N,J Inher Metab Dis,1992年,15卷,402页
  • 9Liu T T,Human Mutat,1998年,11卷,76页
  • 10刘晓青,中华医学遗传学杂志,1997年,14卷,351页

共引文献23

同被引文献2

  • 1ZURFLUH MR,GIOVANNINI M,FIORI L,et al.Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper[J].A Pilot Study,2005,86:S96-103.
  • 2FIEGE B,BONAFE L,BALLHAUSEN D,et al.Extended tetrahydrobiopterin loading test in the diagnosis of cofactorresponsive phenylketonuria[J].A Pilot Study,2005,8t6:S91-95.

引证文献1

二级引证文献7

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