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小儿内分泌遗传代谢病诊治进展 被引量:1

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作者 杜敏联
出处 《中国实用儿科杂志》 CSCD 北大核心 2004年第5期276-277,共2页 Chinese Journal of Practical Pediatrics
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  • 1Wolf B,Heard GS.Screening for biotinidase deficiency in newborns:worldwide experience.Pediatrics,1990,85:512-517.
  • 2Aoki Y,Suzuki Y,Sakamoto O,et al.Molecular analysis of holocarboxylase synthetase deficiency:a missense mutation and a single base deletion are predominant in Japanese patients.Biochim Biophys Acta,1995,1272:168-174.
  • 3Xue Y,Yoko A,Xue L,et al.Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.J Hum Genet,2000,45:358-362.
  • 4Tang NL,Hui J,Yong CK,et al.A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.Clin Biochem,2003,36:145-149.
  • 5Hwu WL,Suzuki Y,Yang X,et al.Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.J Formos Med Assoc,2000,99:174-177.
  • 6Dupuis L,Campeau E,Leclerc D,et al.Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.Mol Genet Metab,1999,66:80-90.
  • 7杨艳玲,山口清次,田上泰子,张月华,熊晖,长谷川有纪,木村正彦,花井润师,藤田晃三,钱宁,何晓菊,吴晔,包新华,秦炯,吴希如.生物素酶缺乏症的诊断与治疗六例分析[J].中华儿科杂志,2003,41(4):249-251. 被引量:20

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