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Alstrm综合征一例 被引量:6

Alstrm syndrome: one case report
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出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2006年第1期93-93,共1页 Chinese Journal of Endocrinology and Metabolism
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参考文献3

  • 1李梅,夏维波,金自孟,施惠平,孟迅吾,邢小平.Alstrom综合征一例[J].中华儿科杂志,2004,42(6):471-471. 被引量:9
  • 2Collin GB,Marshall JD,Boerkoel CF,et al.Alstrom syndrome:further evidence for linkage to huamn chromosome 2p13.Hum Genet,1999,105:474-479.
  • 3Collin GB,Marshall JD,Ikeda A,et al.Mutations in ALMSI cause obesity,type 2 diabetes and neurosensory degeneration in Alstrom syndrome.Nat Genet,2002,31:74-78.

二级参考文献3

  • 1Collin GB, Marshall JD, Ikeda A,et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.Nat Genet,2002;31:74-78.
  • 2Marshall JD, Ludman MD, Shea SE, et al. Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families. Am J Med Genet,1997,73:150-161.
  • 3Satman I, Yilmaz MT, Gursoy N,et al. Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome: a long-term prospective follow-up of three siblings. Diabetes Res Clin Pract,2002,56:189-196.

共引文献8

同被引文献28

  • 1李梅,夏维波,金自孟,施惠平,孟迅吾,邢小平.Alstrom综合征一例[J].中华儿科杂志,2004,42(6):471-471. 被引量:9
  • 2李德天,王艳秋,李玲,杨旭.Alstrom综合征一例[J].中华内科杂志,2004,43(9):650-650. 被引量:9
  • 3栾云,焦铁健,刘坤.Alstrom综合征1例[J].中国当代儿科杂志,2007,9(4):369-370. 被引量:4
  • 4Alstrom CH, Hallgren B, Nil sson LB, et al. Retinal degeneration combined with obesity, diabetes mellitus, and neurogenous deafness : a specific syndrome ( not hitherto described) distinct from the Laurence- Moon-Bardet-Biedl syndrome : a clinical, endocrinological, and geneticexamination based on a large pedigree. Acta Psychiatr Neurol Scand, 1959,34 : 1235.
  • 5Minton JA, Owen KR, Ricketts C.I, et al. Syndromic obesity and diabetes : changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstr~m syndrome. J Clin Endocrinol Metab, 2006,91:3110-3116.
  • 6Chou PI, Chen CH, Chen JT, et al. AlstrOm syndrome with subclinical insulin-resistant diabetes and hepatic dysfunction: A family report. J Pediatr Ophthalmol Strabismus, 2000,37 : 179-182.
  • 7Liu L, Dong B, Chen X, et al. Identification of a novel ALMS1 mutation in a Chinese family with AlstrOm syndrome. Eye, 2009, 23: 1210- 1212.
  • 8Collin GB, MarshallJD, Boerkoel CF, et al. Alstrom syndrome : further evidence for linkage to human chromosome 2p13. Hum Genet, 1999, 105:474-479.
  • 9Marshall JD, BronsonRT, Collin GB, et al. New Alstrm syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med, 2005,165:675-683.
  • 10Pasquali R, Casimirri F, Cantobelli S, et al. Effect of obesity and body fat distribution on sex hormone and insulin in man [ J ].Mtabolism, 1991,40 : 101-104.

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