List of works - Diva D De León

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

scientific article published on 22 February 2007

A liquid chromatography-mass spectrometry assay for quantification of Exendin[9-39] in human plasma.

scientific article published on 16 December 2013

A novel atypical presentation of insulin autoimmune syndrome (Hirata's disease) in a child

scientific article

A novel mutation in GATA6 causes pancreatic agenesis

scientific article

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase

scientific article published on 6 February 2017

A unique allosteric insulin receptor monoclonal antibody that prevents hypoglycemia in the SUR-1(/( mouse model of KATP hyperinsulinism.

scientific article published on 28 March 2018

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model

scientific article published on 31 July 2020

Adding Glucagon-Stimulated GH Testing to the Diagnostic Fast Increases the Detection of GH-Sufficient Children

scientific article published on 17 March 2016

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

scientific article published on 31 May 2019

Calcineurin signaling regulates human islet {beta}-cell survival.

scientific article

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

scientific article published in 2022

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations

scientific article published in March 2018

Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.

scientific article published on 20 September 2013

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.

scientific article published on March 2012

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2.

scientific article published on 10 January 2018

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

scientific article published on 14 June 2018

Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.

scientific article published on 18 October 2016

Congenital hyperinsulinism disorders: Genetic and clinical characteristics

scientific article published on 14 August 2019

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

scientific article published on 6 November 2015

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication.

scientific article published in May 2015

Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism

scientific article published on 07 August 2018

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"

scientific article published on 01 January 2019

Correction: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

scientific article published in 2022

Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia.

scientific article published on 09 July 2013

Dysregulated insulin in pancreatic insufficient cystic fibrosis with post-prandial hypoglycemia

scientific article published on 08 August 2019

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient.

scientific article published on 14 April 2017

Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.

scientific article published on 25 April 2017

GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells.

scientific article published on 8 February 2017

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel

scientific article

Genetic characteristics of patients with congenital hyperinsulinism

scientific article published on 01 August 2018

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

scientific article published on 30 November 2020

High Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism.

scientific article

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

scientific article published on 04 February 2019

Hyperinsulinism in the Neonate.

scientific article published on 6 December 2017

Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism

scientific article published on 9 December 2015

Identification of transcriptional targets during pancreatic growth after partial pancreatectomy and exendin-4 treatment.

scientific article

Incidence and risk of celiac disease after type 1 diabetes: A population-based cohort study using the health improvement network database

scientific article published on 09 October 2018

Increased glucagon-like peptide-1 secretion and postprandial hypoglycemia in children after Nissen fundoplication

scientific article published on 28 October 2008

Islet Hormone and Incretin Secretion in Cystic Fibrosis after Four Months of Ivacaftor Therapy

scientific article published on 01 February 2019

Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy

scientific article published on 12 February 2016

Mechanotransduction drives post ischemic revascularization through K(ATP) channel closure and production of reactive oxygen species.

scientific article published on 31 July 2013

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence ⬇️

scientific article published on April 13, 2011

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

scientific article published on 14 December 2016

Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia

scientific article published on 06 September 2019

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

scientific article published on 28 August 2019

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

scientific article published on 16 July 2012

Octreotide use and safety in infants with hyperinsulinism

scientific article published on 02 December 2016

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

scientific article published on 12 June 2021

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

scientific article published on 29 August 2016

Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.

scientific article published on 27 October 2017

Postoperative surveillance and detection of postprandial hypoglycemia after fundoplasty in children

scientific article published on 17 May 2011

Postprandial Hypoglycemia in Children after Gastric Surgery: Clinical Characterization and Pathophysiology

scientific article published on 23 December 2015

Preexisting pancreatic acinar cells contribute to acinar cell, but not islet beta cell, regeneration.

scientific article published on April 2007

Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide

scientific article published on 01 December 2018

Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management

scientific article

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children

scientific article published on 06 May 2015

Reduced β-Cell Secretory Capacity in Pancreatic-Insufficient, but Not Pancreatic-Sufficient, Cystic Fibrosis Despite Normal Glucose Tolerance

scientific article published on 5 August 2016

Research initiatives in neonatal hypoglycemia

scientific article published on 20 March 2010

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children

scientific article published on 05 October 2018

The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism

scientific article published on 12 October 2018

Use of Propranolol for Treating Hemangiomas in Infants with Previously Diagnosed Hypoglycemic Conditions

scientific article published on 30 August 2016

Use of metformin to control clozapine-associated weight gain in an adolescent with schizoaffective disorder.

scientific article published in April 2010

β-Cell secretory defects are present in pancreatic insufficient cystic fibrosis with 1-hour oral glucose tolerance test glucose ≥155 mg/dL.

scientific article

List of works by Diva D De León

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

A liquid chromatography-mass spectrometry assay for quantification of Exendin[9-39] in human plasma.

A novel atypical presentation of insulin autoimmune syndrome (Hirata's disease) in a child

A novel mutation in GATA6 causes pancreatic agenesis

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase

A unique allosteric insulin receptor monoclonal antibody that prevents hypoglycemia in the SUR-1(/( mouse model of KATP hyperinsulinism.

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model

Adding Glucagon-Stimulated GH Testing to the Diagnostic Fast Increases the Detection of GH-Sufficient Children

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Calcineurin signaling regulates human islet {beta}-cell survival.

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations

Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2.

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.

Congenital hyperinsulinism disorders: Genetic and clinical characteristics

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication.

Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"

Correction: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia.

Dysregulated insulin in pancreatic insufficient cystic fibrosis with post-prandial hypoglycemia

Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient.

Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.

GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells.

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel

Genetic characteristics of patients with congenital hyperinsulinism

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

High Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

Hyperinsulinism in the Neonate.

Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism

Identification of transcriptional targets during pancreatic growth after partial pancreatectomy and exendin-4 treatment.

Incidence and risk of celiac disease after type 1 diabetes: A population-based cohort study using the health improvement network database

Increased glucagon-like peptide-1 secretion and postprandial hypoglycemia in children after Nissen fundoplication

Islet Hormone and Incretin Secretion in Cystic Fibrosis after Four Months of Ivacaftor Therapy

Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy

Mechanotransduction drives post ischemic revascularization through K(ATP) channel closure and production of reactive oxygen species.

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence ⬇️

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Octreotide use and safety in infants with hyperinsulinism

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.

Postoperative surveillance and detection of postprandial hypoglycemia after fundoplasty in children

Postprandial Hypoglycemia in Children after Gastric Surgery: Clinical Characterization and Pathophysiology

Preexisting pancreatic acinar cells contribute to acinar cell, but not islet beta cell, regeneration.

Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide

Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children

Reduced β-Cell Secretory Capacity in Pancreatic-Insufficient, but Not Pancreatic-Sufficient, Cystic Fibrosis Despite Normal Glucose Tolerance

Research initiatives in neonatal hypoglycemia

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children

The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism

Use of Propranolol for Treating Hemangiomas in Infants with Previously Diagnosed Hypoglycemic Conditions

Use of metformin to control clozapine-associated weight gain in an adolescent with schizoaffective disorder.

β-Cell secretory defects are present in pancreatic insufficient cystic fibrosis with 1-hour oral glucose tolerance test glucose ≥155 mg/dL.