一名14岁青春期女孩患A型胰岛素抵抗综合征，无常见临床特征。 - Suppr

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超能文献

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features.

作者信息

Lee Na Won, Jeong Ji Eun, Kim Young Hwan, Ki Chang Seok, Kim Jin Kyung

机构信息

Department of Pediatrics, Daegu Catholic University School of Medicine, Daegu, Korea.

GC Genome, Yongin, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S17-S19. doi: 10.6065/apem.2244106.053. Epub 2023 Feb 1.

DOI:10.6065/apem.2244106.053

PMID:36731506

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10783927/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/991f/10783927/2128f7c19065/apem-2244106-053f1.jpg

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本文引用的文献

INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review.胰岛素受体（INSR）基因突变。小儿中胰岛素抵抗患病率较低。病例回顾。

Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):588-589. doi: 10.1016/j.endinu.2019.04.005. Epub 2019 Jun 20.

Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.由于胰岛素受体突变导致的严重胰岛素抵抗，从儿童期、青春期到过渡时期的诊断和治疗挑战。

Pediatr Diabetes. 2017 Dec;18(8):835-838. doi: 10.1111/pedi.12486. Epub 2017 Jan 17.

Hypoglycaemia revealing heterozygous insulin receptor mutations.低血糖揭示杂合胰岛素受体突变。

Diabetes Metab. 2017 Feb;43(1):95-96. doi: 10.1016/j.diabet.2016.07.001. Epub 2016 Jul 26.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):561-4. doi: 10.1515/jpem-2013-0284.

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.内分泌学中的遗传学：严重胰岛素抵抗的遗传形式：内分泌学家应该了解的内容。

Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct.

Genetic syndromes of severe insulin resistance.严重胰岛素抵抗的遗传综合征。

Endocr Rev. 2011 Aug;32(4):498-514. doi: 10.1210/er.2010-0020. Epub 2011 May 2.

Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene.一个家族中胰岛素受体基因突变导致的胰岛素抵抗表型多样性。

Endocr J. 2010;57(6):509-16. doi: 10.1507/endocrj.k09e-339. Epub 2010 Mar 25.

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