Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene. [PDF]
JCEM Case RepSozaeva LS +5 more
europepmc +1 more source
[Congenital hyperinsulinism as a part of Kabuki syndrome]. [PDF]
Probl Endokrinol (Mosk), 2022 Benina AR, Melikyan MA.
europepmc +1 more source
Clinical Feature and Mutation Analysis of Glutamate Dehydrogenase (GLUD1) in Three Chinese Patients with Congenital Hyperinsulinism [PDF]
, 2018 Xin Xiao
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Reassessing Pancreatectomy in Diffuse Congenital Hyperinsulinism: A Tale of 2 Brothers With Homozygous <i>KCNJ11</i> Variants. [PDF]
JCEM Case RepRafique HA, Lucas-Herald AK, Shaikh MG.
europepmc +1 more source
Orphan designation: Recombinant human monoclonal antibody to insulin receptor, Treatment of congenital hyperinsulinism [PDF]
, 2019 openalex +1 more source
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. [PDF]
Front Endocrinol (Lausanne)Flanagan SE +8 more
europepmc +1 more source
Orphan designation: Glucagon analogue linked to a human immunoglobulin Fc fragment, Treatment of congenital hyperinsulinism [PDF]
, 2019 openalex +1 more source
Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.
J Clin Endocrinol MetabBoodhansingh KE +6 more
europepmc +1 more source
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders
, 2016 Charles A. Stanley
openalex +1 more source