Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management

por Lord, Katherine, De León, Diva D
Publicado 2013

The Role of GLP-1 Signaling in Hypoglycemia due to Hyperinsulinism

por Danowitz, Melinda, De Leon, Diva D.
Publicado 2022

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

por Banerjee, Indraneel, De Leon, Diva, Dunne, Mark J.
Publicado 2017

Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study

por Rosenfeld, Elizabeth, Alzahrani, Ohoud, De León, Diva D
Publicado 2023

New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

por Stanley, Charles A., Thornton, Paul S., De Leon, Diva D.
Publicado 2023

Insulin Immunoassay Interference Due to Human Antimouse Antibodies in a Patient With Ketotic Hypoglycemia

por Craven, Meghan, Lord, Katherine, Leavens, Karla F, De Leon, Diva D
Publicado 2023

Exendin-(9-39) Effects on Glucose and Insulin in Children With Congenital Hyperinsulinism During Fasting and During a Meal and a Protein Challenge

por Stefanovski, Darko, Vajravelu, Mary E., Givler, Stephanie, De León, Diva D.
Publicado 2022

Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review

por Gold, Jessica I., Gold, Nina B., DeLeon, Diva D., Ganetzky, Rebecca
Publicado 2022

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

por Calabria, Andrew C., Li, Changhong, Gallagher, Paul R., Stanley, Charles A., De León, Diva D.
Publicado 2012

A selective nonpeptide somatostatin receptor 5 agonist effectively decreases insulin secretion in hyperinsulinism

por Juliana, Christine A., Chai, Jinghua, Arroyo, Pablo, Rico-Bautista, Elizabeth, Betz, Stephen F., De León, Diva D.
Publicado 2023

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

por Soundarapandian, Mangala M., Juliana, Christine A., Chai, Jinghua, Haslett, Patrick A., Fitzgerald, Kevin, De León, Diva D.
Publicado 2020

MON-110 Utilization of GluCEST, a Novel Neuroimaging Technique, to Characterize the Brain Phenotype in Hyperinsulinism/Hyperammonemia Syndrome

por Rosenfeld, Elizabeth, Nanga, Ravi P R, Reddy, Ravinder, Revell, Andy, Roalf, David R, Davis, Kathryn A, De Leon, Diva D
Publicado 2020

MON-087 Natural History and Neurodevelopmental Outcomes in Perinatal Stress Induced Hyperinsulinism

por Sigal, Winnie M, Alzahrani, Ohoud, Guzman, Herodes, Rios, Gabriela M Guadalupe, Thomas, Nina H, Radcliffe, Jerilynn, De Leon, Diva D
Publicado 2020

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

por Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A., Brusgaard, Klaus, De Leon, Diva D., Sparkes, Rebecca, Frederiksen, Anja L., Christesen, Henrik T.
Publicado 2021

Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

por Boodhansingh, Kara E., Kandasamy, Balamurugan, Mitteer, Lauren, Givler, Stephanie, De Leon, Diva D., Shyng, Show‐Ling, Ganguly, Arupa, Stanley, Charles A.
Publicado 2019

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

por Banerjee, Indraneel, Raskin, Julie, Arnoux, Jean-Baptiste, De Leon, Diva D., Weinzimer, Stuart A., Hammer, Mette, Kendall, David M., Thornton, Paul S.
Publicado 2022

Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

por Banerjee, Indraneel, Raskin, Julie, Arnoux, Jean-Baptiste, De Leon, Diva D., Weinzimer, Stuart A., Hammer, Mette, Kendall, David M., Thornton, Paul S.
Publicado 2022

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome

por Boodhansingh, Kara E., Rosenfeld, Elizabeth, Lord, Katherine, Adzick, N. Scott, Bhatti, Tricia, Ganguly, Arupa, De Leon, Diva D., Stanley, Charles A.
Publicado 2022

Natural history and neurodevelopmental outcomes in perinatal stress induced hyperinsulinism

por Sigal, Winnie M., Alzahrani, Ohoud, Guadalupe, Gabriela M., Guzman, Herodes, Radcliffe, Jerilynn, Thomas, Nina H., Jawad, Abbas F., De Leon, Diva D.
Publicado 2022

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

por Guzman, Herodes, Yazdani, Sahr, Harmon, Jennifer L., Chapman, Kimberly A., Vitola, Bernadette, Pyle, Louise, McKnight, Heather, Sigal, Winnie, Lord, Katherine, De Leon, Diva D., Merchant, Nadia, Ganetzky, Rebecca
Publicado 2023