Article
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Acta diabetologica - 1 Dec 2021
Laimon Wafaa, El-Ziny Magdy, El-Hawary Amany, Elsharkawy Ashraf, Salem Nanees Abdel-Badie, Aboelenin Hadil Mohamed, Awad Mohammad Hosny, Flanagan Sarah E, De Franco Elisa
Abstract excerpt
AIMS: Neonatal diabetes mellitus (NDM) is a rare disease where diabetes presents during the first six months of life. There are two types of this disorder: permanent neonatal diabetes (PNDM) and transient neonatal diabetes mellitus (TNDM). PNDM occurs due to mutations in genes involved in either beta-cell survival, insulin regulation, and secretion. This study aims to define the genetic aetiology and clinical...
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