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A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in .

作者信息

Saito-Hakoda Akiko, Nishii Aki, Uchida Takashi, Kikuchi Atsuo, Kanno Junko, Fujiwara Ikuma, Kure Shigeo

机构信息

Department of Pediatrics, JR Sendai Hospital, Sendai, Japan.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

出版信息

Clin Pediatr Endocrinol. 2018;27(1):53-57. doi: 10.1297/cpe.27.53. Epub 2018 Jan 30.

DOI:10.1297/cpe.27.53
PMID:29403157
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5792822/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d17/5792822/4d1b3ce4d0c3/cpe-27-053-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d17/5792822/15d975cde9cd/cpe-27-053-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d17/5792822/4d1b3ce4d0c3/cpe-27-053-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d17/5792822/15d975cde9cd/cpe-27-053-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d17/5792822/4d1b3ce4d0c3/cpe-27-053-g002.jpg

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本文引用的文献

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Acanthosis nigricans in obese adolescents: prevalence, impact, and management challenges.肥胖青少年中的黑棘皮病：患病率、影响及管理挑战
Adolesc Health Med Ther. 2016 Dec 16;8:1-10. doi: 10.2147/AHMT.S103396. eCollection 2017.
2
Sequencing analysis of insulin receptor defects and detection of two novel mutations in gene.胰岛素受体缺陷的测序分析及该基因中两个新突变的检测
Mol Genet Metab Rep. 2014 Feb 11;1:71-84. doi: 10.1016/j.ymgmr.2013.12.006. eCollection 2014.
3
An approach to acanthosis nigricans.黑棘皮病的一种治疗方法。
Diabetol Int. 2022 Jan 31;13(2):337-343. doi: 10.1007/s13340-022-00570-5. eCollection 2022 Apr.
4
Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality.杜洛克猪全基因组选择信号检测揭示了与生长和肉质相关的候选基因。
G3 (Bethesda). 2020 Oct 5;10(10):3765-3773. doi: 10.1534/g3.120.401628.
5
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.胰岛素抵抗综合征的临床特征：日本全国性调查。
J Diabetes Investig. 2020 May;11(3):603-616. doi: 10.1111/jdi.13171. Epub 2019 Dec 5.
Indian Dermatol Online J. 2014 Jul;5(3):239-49. doi: 10.4103/2229-5178.137765.
4
Glucose metabolism, insulin sensitivity and β-cell function in type A insulin resistance syndrome around puberty: a 9-year follow-up.青春期前 A 型胰岛素抵抗综合征患者的葡萄糖代谢、胰岛素敏感性和β细胞功能：9 年随访研究。
Horm Metab Res. 2014 Jan;46(1):65-72. doi: 10.1055/s-0033-1357193. Epub 2013 Oct 23.
5
Puberty in children born small for gestational age.胎儿期生长受限儿童的青春期。
Horm Res Paediatr. 2013;80(2):69-77. doi: 10.1159/000353759. Epub 2013 Jul 26.
6
The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling.人胰岛素受体cDNA：激素激活跨膜信号传导的结构基础。
Cell. 1985 Apr;40(4):747-58. doi: 10.1016/0092-8674(85)90334-4.