Literature DB >> 30369364

[A case report of congenital generalized lipodystrophy].

Rui Liu1, Hui-Jun Tan, Jia-Jia Liu, Yuan-Zong Song.   

Abstract

Mesh：

Year:  2018        PMID： 30369364      PMCID： PMC7389046     

Source DB:  PubMed          Journal:  Zhongguo Dang Dai Er Ke Za Zhi        ISSN： 1008-8830


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  23 in total

Review 1.  Acquired and inherited lipodystrophies.

Authors:  Abhimanyu Garg
Journal:  N Engl J Med       Date:  2004-03-18       Impact factor: 91.245

2.  A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.

Authors:  Hsiu-Hui Huang; Tai-Heng Chen; Hui-Pin Hsiao; Chia-Tsuan Huang; Cheng-Chu Wang; Ya-Huei Shiau; Mei-Chyn Chao
Journal:  Kaohsiung J Med Sci       Date:  2010-11       Impact factor: 2.744

3.  Membrane topology of the human seipin protein.

Authors:  Carolina Lundin; Rickard Nordström; Klaus Wagner; Christian Windpassinger; Helena Andersson; Gunnar von Heijne; IngMarie Nilsson
Journal:  FEBS Lett       Date:  2006-03-27       Impact factor: 4.124

4.  Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.

Authors:  Talia Diker-Cohen; Elaine Cochran; Phillip Gorden; Rebecca J Brown
Journal:  J Clin Endocrinol Metab       Date:  2015-03-03       Impact factor: 5.958

5.  High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Authors:  Nelson Purizaca-Rosillo; Takayasu Mori; Yamali Benites-Cóndor; Fuki M Hisama; George M Martin; Junko Oshima
Journal:  Am J Med Genet A       Date:  2016-11-21       Impact factor: 2.802

6.  Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Authors:  Anil K Agarwal; Vinaya Simha; Elif Arioglu Oral; Stephanie A Moran; Phillip Gorden; Stephen O'Rahilly; Zohra Zaidi; Figen Gurakan; Silva A Arslanian; Aharon Klar; Alyne Ricker; Neil H White; Lutz Bindl; Karen Herbst; Kurt Kennel; Shailesh B Patel; Lihadh Al-Gazali; Abhimanyu Garg
Journal:  J Clin Endocrinol Metab       Date:  2003-10       Impact factor: 5.958

Review 7.  Lipodystrophies: rare disorders causing metabolic syndrome.

Authors:  Abhimanyu Garg; Anoop Misra
Journal:  Endocrinol Metab Clin North Am       Date:  2004-06       Impact factor: 4.741

8.  Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.

Authors:  Jing Jin; Lingfeng Cao; Zhuhui Zhao; Shuixian Shen; Wieland Kiess; Dijing Zhi; Rong Ye; Ruoqian Cheng; Lian Chen; Yi Yang; Feihong Luo
Journal:  Eur J Endocrinol       Date:  2007-12       Impact factor: 6.664

9.  Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Authors:  Christian Windpassinger; Michaela Auer-Grumbach; Joy Irobi; Heema Patel; Erwin Petek; Gerd Hörl; Roland Malli; Johanna A Reed; Ines Dierick; Nathalie Verpoorten; Thomas T Warner; Christos Proukakis; Peter Van den Bergh; Christine Verellen; Lionel Van Maldergem; Luciano Merlini; Peter De Jonghe; Vincent Timmerman; Andrew H Crosby; Klaus Wagner
Journal:  Nat Genet       Date:  2004-02-22       Impact factor: 38.330

10.  Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.

Authors:  Xueying Su; Ruizhu Lin; Yonglan Huang; Huiying Sheng; Xiaofei Li; Tzer Hwu Ting; Li Liu; Xiuzhen Li
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-09-09
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