| 单词 |
permanent neonatal diabetes mellitus |
| 释义 |
permanent neonatal diabetes mellitus
permanent neonatal diabetes mellitus An autosomal dominant condition (OMIM:176730) characterised by insulin-requiring hyperglycaemia diagnosed shortly after birth and the need for lifelong insulin therapy.
Molecular pathology
Caused by defects in INS that prevent normal folding and progression of proinsulin in the insulin secretory pathway.AcronymsSeePNDM |
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