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全身性脂肪营养不良1例报告及文献复习

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摘要 先天性全身性脂肪营养不良(cogential generalized lipodystrophy,CGL)又称贝拉迪内利-赛普综合征(Berardinelli’s-Seip syndrome),由Berardineli于1954年首先报道,是一种遗传代谢性疾病,极为罕见,本院临床诊断1例,现报告如下。
机构地区 台州市中心医院
出处 《浙江实用医学》 2011年第3期222-222,231,共2页 Zhejiang Practical Medicine
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参考文献10

  • 1李江源 密红翠.全身性脂肪营养不良1例[J].军医进修学院学报,1998,:70-70. 被引量:1
  • 2李淑闽 杨巧莉.先天性全身性脂肪营养不良1例报告[J].福建医药杂志,1994,:117-117. 被引量:1
  • 3蒋优君,梁黎,董关萍,邹朝春,尚世强.先天性全身性脂肪营养不良一例[J].中华儿科杂志,2004,42(12):959-959. 被引量:4
  • 4陈瑞敏,陈皓,郭依华,林珊.全身性脂肪营养不良二例报道[J].中国优生与遗传杂志,2002,10(4):124-124. 被引量:3
  • 5朱晓东,张廷熹,郑德馨.全身性脂肪营养不良2例报告[J].临床儿科杂志,1995,13(6):389-390. 被引量:1
  • 6赵诸慧,沈水仙,支涤静,罗飞宏,叶蓉.儿童全身性脂肪营养不良伴糖尿病1例报告[J].临床儿科杂志,2006,24(12):1013-1014. 被引量:7
  • 7Garg A, Wilson R, Barnes R, et al. A gene for congenital general- ized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab, 1999,84(9):3390. 被引量:1
  • 8Antuna-Puente B, Boutet E, Vigouroux C, et al. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3- phosphate-o-acyltransferase-2 deficiency. J Clin Endocrinol Metab, 2010,95(3):1463. 被引量:1
  • 9Beltrand J, Lahlou N, Le Charpentier T, et al. Resistance to leptin replacement therapy in Berardinelli-Seip congenital lipodystrophy (BSCL):An immunological origin. Eur J Endocrinol,2010:17. 被引量:1
  • 10Seip M,Trygstad 0. Generalized lipodystrophy, congenitaland ac- quired(lipoatrophy).Acta Paediatr,1996, Suppl 413:2. 被引量:1

二级参考文献10

  • 1Agarwal AK, Garg A. Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab, 2003,14:214-221. 被引量:1
  • 2Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab, 2003,88:4840-4847. 被引量:2
  • 3Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired(lipoatrophy) .Acta Paediatr Suppl,1996,413:2-28. 被引量:1
  • 4Simha V, Szczepaniak LS, Wagner AJ ,et al. Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy. Diabetes Care,2003 ,26:30-35. 被引量:1
  • 5Berardinelli W. An undiagnosed endocrinometabolic syndrome :report of two case. J Clin Endoerionl Metab, 1954,14:193-204. 被引量:1
  • 6Seip M. Lipoatrophy and gigantism with associated endocrine manifestations:a new diencephalic syndrome? Acta Paedlatr Scand,1959,48:555-574. 被引量:1
  • 7Gedde-Dahl T Jr, Trygstad .O, Van Maldergem L, et al. Genetics of the Berardinelli-Seip syndrome (congenital generalised lipodystroplay)in Norway:cpidemiology and gene mapping.Berardinelli- Seip Study Group. Acta Paediatr Suppl, 1996,413:52-58. 被引量:1
  • 8Garg A,Wilson R, Barnes R, et al, A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab, 1999,84 (9) : 3390-3394. 被引量:1
  • 9Magre J, Delepine M, Khallouf E, et al. BSCL Working Group.Identification of the gene altered in Berardinelli-Sepcongenital lipodystrophy on chromosome 11q13. Nat Genet,2001,28(4):365-370. 被引量:1
  • 10Van Maldergem L, Magre J, Khallouf TE, et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet, 2002,39 (10): 722-733. 被引量:1

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