Article
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Pediatric diabetes - 1 Nov 2020
Ozon Z Alev, Alikasifoglu Ayfer, Kandemir Nurgun, Aydin Busra, Gonc E Nazli, Karaosmanoglu Beren, Celik Nur Berna, Eroglu-Ertugrul Nesibe G, Taskiran Ekim Z, Haliloglu Goknur, Oguz Kader Karli, Kiper Pelin Ozlem, Yalnizoglu Dilek, Utine Gulen Eda, Alikasifoglu Mehmet
Abstract excerpt
BACKGROUND: A number of inborn errors of metabolism caused by abnormal protein trafficking that lead to endoplasmic reticulum storage diseases (ERSD) have been defined in the last two decades. One such disorder involves biallelic mutations in the gene encoding endoplasmic reticulum resident co-chaperone DNAJC3 (P58IPK ) that leads to diabetes in the second decade of life, in addition to multiple endocrine...
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