Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation

Tohru Yorifuji; Yuki Hosokawa; Rie Kawakita; Yukiko Hashimoto; Azumi Sakakibara; Rika Fujimaru; Nobuyoshi Tamagawa

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Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation

机译：日本短暂性新生儿糖尿病的分子基础：频繁的KATP-TNDM和单等位基因INS突变患者的鉴定

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《International journal of pediatric endocrinology》 |2015年第1期|共页
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Tohru Yorifuji; Yuki Hosokawa; Rie Kawakita; Yukiko Hashimoto; Azumi Sakakibara; Rika Fujimaru; Nobuyoshi Tamagawa;
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中图分类内分泌腺疾病及代谢病;
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入库时间 2022-08-18 09:21:41

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1. Molecular and Clinical Analysis of Japanese Patients with Persistent Congenital Hyperinsulinism: Predominance of Paternally Inherited Monoallelic Mutations in the KATP Channel Genes [J] . Tohru Yorifuji, Rie Kawakita, Shizuyo Nagai, The journal of clinical endocrinology and metabolism . 2011,第1期

机译：持续性先天性高胰岛素血症的日本患者的分子和临床分析：KATP通道基因中父系遗传的单等位基因突变的优势。
2. KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. [J] . Ioannou YS, Ellard S, Hattersley A, Pediatric diabetes. . 2011,第2期

机译：KCNJ11激活突变在塞浦路斯患者中引起短暂性和永久性新生儿糖尿病。
3. A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide [J] . Ryojun Takeda, Masaki Takagi, Kentaro Miyai, Clinical Pediatric Endocrinology . 2015,第4期

机译：一例日本糖尿病患者，由ABCC8基因的新突变引起，并成功通过口服格列本脲控制
4. Transition to Adult Care for Youth with Type 1 Diabetes Mellitus: Structured Support Aids for Adolescents and Young Patients in Morioka Area, Japan [C] . Kazuma Takahashi, Akio Takahashi, Yasushi Ishigaki International Conference on eHealth, Telemedicine, and Social Medicine . 2018

机译：与1型糖尿病的青少年过渡到青少年：日本Morioka地区的青少年和年轻患者的结构化支持辅助工具
5. Characterization of neonatal porcine islets as an alternative source of insulin-producing tissue for transplantation into patients with insulin-dependent diabetes mellitus. [D] . Rayat, Gina Ranile. 1999

机译：新生儿猪胰岛的特性可作为胰岛素生产组织的替代来源，用于移植到胰岛素依赖型糖尿病患者中。
6. Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation [O] . Tohru Yorifuji, Yuki Hosokawa, Rie Kawakita, 2015

机译：日本短暂性新生儿糖尿病的分子基础：频繁的KATP-TNDM和单等位基因INS突变患者的鉴定
7. Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation [O] . Tohru Yorifuji, Yuki Hosokawa, Rie Kawakita, 2015

机译：日本短暂性新生儿糖尿病的分子基础：频繁的KATP-TNDM和单等位基因INS突变患者的鉴定

Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation

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