Associated Papers
Neonatal diabetes in Ireland over the past 19 years: Clinical presentation, management, genetics, and outcomes.
Woon Y et al.
Hormone Research in Paediatrics, 2026
Anxiety, social responsiveness, and grit among patients with KCNJ11-related neonatal diabetes compared to unaffected siblings.
Desai JM et al.
Acta Diabetologica, 2026
The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study.
Pietrusiński M et al.
Biomedicines, 2025
Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.
Baby N et al.
Annals of Indian Academy of Neurology, 2025
Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.
Katte JC et al.
Journal of Medical Case Reports, 2024
Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.
Mianesaz H et al.
Journal of Diabetes Investigation, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
Elangeeb ME et al.
Molecules (basel, Switzerland), 2024
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2023
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.
Aloi C et al.
Life (basel, Switzerland), 2023
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants.
Mancioppi V et al.
Frontiers in Endocrinology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
de Gouveia Buff Passone C et al.
Pediatric Diabetes, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M et al.
Pediatric Diabetes, 2022
Early Postnatal Use of Glibenclamide in Permanent Neonatal Diabetes Secondary to Antenatally Diagnosed KJCN11 Mutation.
Walton-Betancourth S et al.
Hormone Research in Paediatrics, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S et al.
Indian Journal of Pediatrics, 2021
Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation.
Iafusco D et al.
Diabetologia, 2021
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S et al.
Pediatric Diabetes, 2021
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 2021
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB et al.
Frontiers in Endocrinology, 2021
The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.
Qin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.
Devaraja J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Abali ZY et al.
Hormone Research in Paediatrics, 2020
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR et al.
Current Diabetes Reports, 2019
Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children.
Balamurugan K et al.
Pediatric Diabetes, 2019
Precision medicine for a man presented with diabetes at 2-month old.
Ang SF et al.
European Journal of Human Genetics : Ejhg, 2019
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2019
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P et al.
The Lancet. Diabetes & Endocrinology, 2018
A novel high-affinity inhibitor against the human ATP-sensitive Kir6.2 channel.
Ramu Y et al.
The Journal of General Physiology, 2018
Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Letourneau LR et al.
Current Diabetes Reports, 2018
Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
Lanning MS et al.
Pediatric Diabetes, 2018
Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China.
Li X et al.
Pediatric Diabetes, 2018
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
Landmeier KA et al.
Pediatric Diabetes, 2017
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift.
Ahmed DM et al.
Laboratory Medicine, 2017
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.
Shields BM et al.
Diabetes Care, 2017
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.
Jain V et al.
Indian Pediatrics, 2017