Research By Disease – CheckOrphan

Disease: Hyperinsulinemic hypoglycemia- familial- 1

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive
A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy
A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy
A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life
A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia
A selective nonpeptide somatostatin receptor 5 agonist effectively decreases insulin secretion in hyperinsulinism
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review
A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia
A Very Rare Case of Diabetes Mellitus Occurring in a Patient With Hyperinsulinism Hyperammonemia Syndrome
Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts
Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
Adjuvant Alpelisib Therapy for Congenital Hyperinsulinism
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS)
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins
Challenges of a drug shortage
Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
Circularity of islets is a distinct marker for the pathological diagnosis of adult non-neoplastic hyperinsulinemic hypoglycemia using surgical specimens
CL-705G: a novel chemical Kir6.2-specific KATP channel opener
Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome
Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes
Clinical characteristics and prognosis of 5 children with maturity onset of diabetes of the young 12 subtype
Clinical characteristics and prognosis of five children with maturity onset of diabetes of the young 12 subtype
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience
Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome
Congenital hyperinsulinism
Congenital Hyperinsulinism - Notes for the General Pediatrician
Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging
Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses
Congenital hyperinsulinism and panhypopituitarism: a rare combination
Congenital hyperinsulinism and surgical outcome in a single tertiary center in Brazil
Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability
Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants
Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants
Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study
Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up
Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up
Congenital Portosystemic Shunts: Variable Clinical Presentations Requiring a Tailored Endovascular or Surgical Approach
Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia
Dasiglucagon for the treatment of congenital hyperinsulinism: a randomised phase 3 trial in infants and children
Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children
Dasiglucagon: a new hope for diazoxide-unresponsive, non-focal congenital hyperinsulinism?
Dasiglucagon: A New Hope for Diazoxide-unresponsive, Nonfocal Congenital Hyperinsulinism?
Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid-sensitive hypoglycemia
Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia
Editorial: The problem of childhood hypoglycaemia
Editorial: The problem of childhood hypoglycemia, volume II
Etiology of the Neonatal Hypoglycemias
Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes
Expert consensus on the diagnosis and treatment of congenital hyperinsulinemic hypoglycemia(2022)
Expert management of congenital portosystemic shunts and their complications
First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism
Focal and diffuse nesidioblastosis simulating insulinoma
Focal congenital hyperinsulinism
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism
Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia
Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism
Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack
Infant of a diabetic mother: clinical presentation, diagnosis and treatment
Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis
Integration of nurse-led virtual reviews with growth hormone device-linked patient adherence information: a mixed methods feasibility study
International Guidelines for the Diagnosis and Management of Hyperinsulinism
Letter to the editor: congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up
Low-dose diazoxide is safe and effective in infants with transient hyperinsulinism
Low-dose diazoxide therapy in hyperinsulinaemic hypoglycaemia
Neonatal hyperinsulinism with an ABCC8 mutation: A case report
Neonatal hyperinsulinism with an ABCC8 mutation: A case report
Neonatal hypoglycemia: lack of evidence for a safe management
Nesidioblastosis and Subsequent Diabetes Mellitus in a Dog with Hyperinsulinemic Hypoglycemia Treated with Partial Pancreatectomy
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia
Non-invasive quantification of stem cell-derived islet graft size and composition
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Novel Use of Dasiglucagon, a Soluble Glucagon Analog, for the Treatment of Hyperinsulinemic Hypoglycemia Secondary to Suspected Insulinoma: A Case Report
One hundred years after the discovery of insulin and glucagon: the history of tumors and hyperplasias that hypersecrete these hormones
Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism
Pathological features in non-neoplastic congenital and adult hyperinsulinism: from nesidioblastosis to current terminology and understanding
Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review
Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism
Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal-Perinatal Medicine Group
Reducing kidney uptake of radiolabelled exendin-4 using variants of the renally cleavable linker MVK
Role of beta-hydroxybutyrate measurement in the evaluation of plasma glucose concentrations in newborn infants
Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism
Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion
The behaviour change behind a successful pilot of hypoglycaemia reduction with HYPO-CHEAT
The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease
The Rising Incidence of Hyperinsulinemic Hypoglycemia: Connection With Maternal Health
The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism