Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome
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DOI: 10.1159/000526203
Abstract: Introduction: The hyperinsulinemia-hyperammonemia syndrome (HIHA) is the second most common cause of congenital hyperinsulinism and is caused by activating heterozygous missense mutations in GLUD1. In the majority of HIHA cases, the GLUD1 mutation is found… read more here.
Keywords: glud1 mutations; mosaic glud1; glud1; peripheral blood ... See more keywords