Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.
Year: 2017
Type: article
Study design: Case Report
Abstract: origin of the mutation. The mutation has been previously described. The infant received octreotide treatment and is prepared for 18-fluoro-dopa PET-CT examination in order to localize the lesion. Rapid genetic testing might be crucial in the clinical management strategy, with decision algorithms taking into account of the genetic status of the patient.
Source: Europe PMC (PubMed Central)
Authors: Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Institutions: University of Debrecen, Semmelweis University
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2903242641