期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

儿童Berardinelli-Seip综合征2例报告 被引量：9

Berardinelli-Seip syndrome in children:A report of 2 case
原文传递
导出
摘要 Berardinelli-Seip综合征（BSCL/CGL;OMIM269700）,也称先天性全身脂肪营养不良症（con-genital generalized lipodystrophy,CGL）,是一种基因突变所致的常染色体隐性遗传病,主要表现为自出生出现的全身脂肪缺失、四肢肌肉肥大和伴随着一系列的代谢紊乱,如高血糖、高胰岛素血症、
作者 劳文芹 孟哲 欧辉 张丽娜 侯乐乐 刘祖霖 梁立阳
机构地区 中山大学孙逸仙纪念医院
出处 《中国实用儿科杂志》 CSCD 北大核心 2016年第2期157-158,共2页 Chinese Journal of Practical Pediatrics
关键词 Berardinelli-Seip综合征 先天性脂肪萎缩综合征 BSCL2基因 Berardinelli-Seip syndrome congenital lipodystrophy syndrome BSCL2 gene
分类号 R72 [医药卫生—儿科]
  • 相关文献

参考文献5

  • 1李圣贤,刘伟.先天性全身脂肪萎缩性糖尿病的分子发病机制[J].国际内分泌代谢杂志,2008,28(2):109-112. 被引量：3
  • 2Rahman OU, Khawar N, Khan MA, et al. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family [ J ]. Diagn Pathol, 2013,8( 1 ) : 78.
  • 3Agarwal AK, Simha V, Oral EA, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy [J]. Clin Endocrinol Metab, 2003,88 (10) : 4840-4847.
  • 4Garg A, Agarwal AK. Caveolin- 1 : a new locus for human lipo- dystrophy [ J ]. Clin Endocrinol Metab, 2008,93 (4) : 1183-1 185.
  • 5Huang HH, Chert TH, Hsiao HP, et al. A Taiwan Residents boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene [J]. Kaohsiung J Med Sci, 2010,26( 11 ) :615-620.

二级参考文献15

  • 1Jin J ,Cao L,Zhao Z,et al. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. Eur J Endocrinol,21307,157 :783-787.
  • 2Shinya T, Sato S, Akaki S, et al. Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. Radiat Med ,2007,25:484-487.
  • 3Lima DL, Montenegro Junior RM, Femandes VO, et al. Dental and periodontal alterations in Berardinelli-Seip syndrome. J Int Acad Periodontol,2007,9:63-67.
  • 4Agarwal AK,Simha V,Oral EA,et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab ,2003,88:4840-4847.
  • 5Ebihara K,Kusakabe T,Masuzaki H,et al. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese:a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab, 2004,89:2360-2364.
  • 6Haque W,Garg A,Agarwal AK. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. Biochem Biophys Res Commun ,2005,327:446-453.
  • 7Gale SE ,Frolov A,Han X,et al. A regulatory role for 1-acylglyceral-3- phosphate-O-acyltransferase 2 in adipocyte differentiation. J Biol Chem,2006,281 : 11082-11089.
  • 8Mandal K, Aneja S, Seth A, et al. Berardinelli-Seip congenital lipodystrophy. Indian Pediatr ,2006 ,43 :440-445.
  • 9Windpassinger C,Auer-Grumbach M,Irobi J,et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet,2004,36:271-276.
  • 10Lundin C, Nordstrom R, Wagner K, et al. Membrane topology of the human seipin protein. FEBS Lett ,2006,580:2281-2284.

共引文献2

同被引文献16

引证文献9

二级引证文献13

中国实用儿科杂志
2016年 第2期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部