A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by 18F-DOPA-PET/CT scan-Reference-Cited by-同舟云学术

A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by 18F-DOPA-PET/CT scan

Published:2015-11 Issue:2 Volume:572 Page:222-226
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Zhang Wen,Liu Li,Wen Zhe,Cheng Jing,Li Cuiling,Li Xiuzhen,Niu Huilin,Wang Fenghua,Sheng Huiying,Liu Hongsheng

Funder

Medical Scientific Research Foundation Project of Guangdong Province

Guangzhou Branch Bureau of Science and Technology Plan Project

China National “Twelfth Five-Year” Plan for Science and Technology Support

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference33 articles.

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2. Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations;Arya;Eur. J. Endocrinol.,2014

3. Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism;Arya;PLoS One,2014

4. Abnormal neurodevelopmental outcomes are common in children with transient congenital hyperinsulinism;Avatapalle;Front Endocrinol. (Lausanne),2013

5. Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism;Banerjee;Clin. Endocrinol. (Oxf),2013

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1. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8;The Journal of Clinical Endocrinology & Metabolism;2023-05-22

2. Developmental outcomes in children treated for focal and non-focal forms of congenital hyperinsulinism;Early Child Development and Care;2022-08-08

3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management;Journal of Pediatric Endocrinology and Metabolism;2021-09-21

4. Surgical management of medically-refractory hyperinsulinism;The American Journal of Surgery;2020-06

5. Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China;Journal of Clinical Research in Pediatric Endocrinology;2019-12-01