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ey0018.2-5 | Neonatal hypoglycaemia | ESPEYB18

2.5. SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism.

V Lithovius , J Saarimaki-Vire , D Balboa , H Ibrahim , H Montaser , T Barsby , T Otonkoski

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

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ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):63386353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

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ey0018.13-7 | Endocrinology | ESPEYB18

13.7. We all have a role to play: redressing inequities for children living with CAH and other chronic health conditions of childhood in resource-poor settings

K Armstrong , AB Yap , S Chan-Cua , ME Craig , C Cole , V Chi Dung , J Hansen , M Ibrahim , H Nadeem , A Pulungan , J Raza , A Utari , P. Ward

Int. J. Neonatal Screen 2020; 6: 76. doi: 10.3390/ijns6040076 CLAN (Caring and Living as Neighbours) is an Australian non-governmental organisation (NGO) committed to a rights-based approach to optimizing quality of life for children and young people living with CAH and other chronic health conditions in resource-limited settings This paper used exploratory case study as a method t...

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ESPE Yearbook of Paediatric Endocrinology

2.5. SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism.

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

13.7. We all have a role to play: redressing inequities for children living with CAH and other chronic health conditions of childhood in resource-poor settings

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