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矮妖综合征

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作者 陈陵
机构地区 滨州职业学院
出处 《临床荟萃》 CAS 北大核心 2007年第14期1062-1063,共2页 Clinical Focus
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参考文献9

  • 1Fujieda K.Leprechaunism (Donohue syndrome)[J].Nippod Rinsho,2006,28(Suppl 3):94-99.
  • 2Gable EM,Brandonisio TM.Ocular manifestations of Donohue's syndrome[J].Optom Vis,2003,80(2):339-343.
  • 3姜蕾,刘超,王卫庆,叶蕾,朱娜,周薇薇,苏颋为,李小英,宁光.矮妖综合征:胰岛素受体缺陷所致的胰岛素抵抗综合征[J].中华内科杂志,2006,45(9):730-733. 被引量:13
  • 4Maassem JA,Tohias ES,Kayserilli H,et al.Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance[J].J Clin Endocrinol Metab,2003,88(21):4251-4257.
  • 5Georgr S,Johansen A,Soos MA,et al.Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject[J].Endocrinology,2003,144(4):631-637.
  • 6Chernausek SD.Mendelian genetic causes of the short child horn small for gestational age[J].J Endocrinol Invest,2006,29(1 Suppl):16-20.
  • 7Park HS,Jin DK,Shin SM,et al.Impaired generation of reactive oxygen species in leprechaunasm through downergulation of Nox4[J].Diabetes,2005,54(11):3175-3181.
  • 8Yang YL,Meng Y,Fang FD.Research development of Mendelian inherited diabetes[J].Zhongguo Yi Xue Ke Xue Yuan Xue Bao,2005,27(3):382-387.
  • 9Krook A,Brueton L,O'Rahillv S.Homozygous nonsense mutation in the insulin receptor Gene in infant with leperchaunism[J].Lancet,1993,342(2):277-278.

二级参考文献8

  • 1Longo N,Wang Y,smith SA,et al.Genotype-phenotype correlation in inherited severe insulin resistance.Hum Mol Genet,2002,11:1465 -1475.
  • 2Gable EM,Brandonisio TM.Ocular manifestations of Donohue's syndrome.Optom Vis Sci,2003,80:339-343.
  • 3Longo N,Wang Y,Pasquali M.Progressive decline in insulin levels in Rabson-Mendenhall syndrome.J Clin Endocrinol Metab,1999,84:2623-2629.
  • 4Maassen JA,Tobias ES,Kayserilli H,et al.Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.J Clin Endocrinol Metab,2003,88:4251-4257.
  • 5George S,Johansen A,soos MA,et al.Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.Endocrinology,2003,144:631-637.
  • 6Musso C,Cochran E,Moran SA,et al.Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes):a 30-year prospective.Medicine (Baltimore),2004,83:209-222.
  • 7Araki S.Syndromes of severe insulin resistance.Nippon Rinsho,1999,57:617-621.
  • 8Murashita M,Tajima T,Nakae J,et al.Leprechaunism caused by mutations in the insulin receptor gene.Nippon Rinsho,2002,60:344-349.

共引文献12

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