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New insights and new conundrums in neonatal hypoglycemia: enigmas wrapped in mystery.

作者信息

Sperling Mark A

机构信息

Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

出版信息

Diabetes. 2013 May;62(5):1373-5. doi: 10.2337/db12-1839.

DOI:10.2337/db12-1839
PMID:23613554
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3636644/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5118/3636644/3fd1a8a8f8ad/1373fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5118/3636644/3fd1a8a8f8ad/1373fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5118/3636644/3fd1a8a8f8ad/1373fig1.jpg

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本文引用的文献

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2
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.马赛克样过度生长伴纤维脂肪组织增生是由 PIK3CA 体细胞激活突变引起的。
Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.
3
An activating mutation of AKT2 and human hypoglycemia.
AKT2 激活突变与人类低血糖症。
Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6.
4
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.AKT1 中的镶嵌激活突变与Proteus 综合征相关。
N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.
5
Rare forms of congenital hyperinsulinism.先天性高胰岛素血症的罕见类型。
Semin Pediatr Surg. 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006.
6
Why expression of some genes is disallowed in beta-cells.为什么某些基因在β细胞中不被允许表达。
Biochem Soc Trans. 2008 Jun;36(Pt 3):300-5. doi: 10.1042/BST0360300.
7
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes.单基因β细胞糖尿病分子遗传学分类的临床意义
Nat Clin Pract Endocrinol Metab. 2008 Apr;4(4):200-13. doi: 10.1038/ncpendmet0778. Epub 2008 Feb 26.
8
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism.[18F]氟多巴正电子发射断层扫描在诊断和定位局灶性先天性高胰岛素血症中的准确性。
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Nat Clin Pract Endocrinol Metab. 2007 Jan;3(1):57-68. doi: 10.1038/ncpendmet0368.
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Hypoglycemia in newborns and infants.
Adv Pediatr. 2006;53:5-22. doi: 10.1016/j.yapd.2006.04.004.