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

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

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations

por Li, Changhong, Juliana, Christine A., Yuan, Yue, Li, Ming, Lu, Ming, Chen, Pan, Boodhansingh, Kara E., Doliba, Nicolai M., Bhatti, Tricia R., Adzick, N. Scott, Stanley, Charles A., De León, Diva D.
Publicado 2023

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

por Rosenfeld, Elizabeth, Mitteer, Lauren, Boodhansingh, Kara, Becker, Susan A., McKnight, Heather, Boyajian, Linda, Ackermann, Amanda M., Kalish, Jennifer M., Bhatti, Tricia R., States, Lisa J., Adzick, N. Scott, Lord, Katherine, De León, Diva D.
Publicado 2021