Articles with "permanent neonatal" as a keyword



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Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

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Published in 2018 at "Pediatric Diabetes"

DOI: 10.1111/pedi.12669

Abstract: The basic helix‐loop‐helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult‐onset non‐insulin‐dependent diabetes mellitus (NIDDM)… read more here.

Keywords: neurological abnormalities; missense mutation; diabetes mellitus; neonatal diabetes ... See more keywords
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Neonatal Diabetes Mellitus - Is Trisomy 21 Associated With Refractory Hyperglycaemia?

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Published in 2022 at "Journal of Ayub Medical College, Abbottabad : JAMC"

DOI: 10.55519/jamc-03-s1-9377

Abstract: Background Neonatal diabetes mellitus is a rare disorder characterized by refractory hyperglycaemia which is further divided into two types, transient (TNDM) and permanent neonatal diabetes (PNDM), which is associated with genetic aberrations at the human… read more here.

Keywords: refractory hyperglycaemia; diabetes mellitus; mellitus trisomy; permanent neonatal ... See more keywords