[Clinical features and INS mutations of an infant with neonatal diabetes mellitus].
作者信息
Luo Yan-Fei, Liang Ling, Sun Guang-Hui, Reyilanmu Baoerhan, DU Xing-Yue, Cao Chen, Zhao Zhen-Zhen, Dilihuma Julaiti, Tang Xiao-Dan, Mireguli Maimaiti
机构信息
Department of Pediatrics, First Hospital, Xinjiang Medical University, Urumqi 830054, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):955-957. doi: 10.7499/j.issn.1008-8830.2018.11.015.
Abstract
摘要
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本文引用的文献
1
Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia.11β-羟化酶缺乏症先天性肾上腺皮质增生症中的身高增加
Int J Pediatr Endocrinol. 2015;2015(1):12. doi: 10.1186/s13633-015-0008-0. Epub 2015 May 15.
2
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.与新生儿糖尿病相关的突变胰岛素蛋白滞留在内质网中，不能有效分泌。
Biochem Biophys Res Commun. 2010 Jan 15;391(3):1449-54. doi: 10.1016/j.bbrc.2009.12.090. Epub 2009 Dec 23.
3
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.体外处理和分泌导致新生儿永久性糖尿病的突变胰岛素蛋白。
Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E403-10. doi: 10.1152/ajpendo.00592.2009. Epub 2009 Dec 1.
4
Insulin gene mutations as a cause of permanent neonatal diabetes.胰岛素基因突变是永久性新生儿糖尿病的一个病因。
Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. doi: 10.1073/pnas.0707291104. Epub 2007 Sep 12.
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