Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismGenome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyHyperinsulinemic Hypoglycemia - The Molecular MechanismsHyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and ManagementLong-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centersThe Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaAltered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Update on neonatal hypoglycemia.Congenital hyperinsulinism: current status and future perspectives.Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapyHyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the DiseaseConservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R.).Clinical practice guidelines for congenital hyperinsulinism.Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.Congenital Hyperinsulinism in china: a review of Chinese literature over the past 15 yearsHyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9.Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging.A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotoniaA syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation.A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism.Congenital Hyperinsulinism: Diagnosis and Treatment Update.Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
P2860
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P2860
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@ast
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@en
type
label
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@ast
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@en
prefLabel
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@ast
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@en
P2093
P2860
P356
P1476
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
@en
P2093
Julian P Shield
Khalid Hussain
Ritika R Kapoor
Ved Bhushan Arya
P2860
P304
P356
10.1530/EJE-12-0673
P577
2013-03-15T00:00:00Z