ISSN 1662-4009 (online)

ey0016.2-5 | Neonatal Hypoglycaemia | ESPEYB16

2.5. Diagnosis and management of hyperinsulinaemic hypoglycaemia

S Galcheva , S Al-Khawaga , K Hussain

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551–573.This review provides a state of the art in the field of hyperinsulinaemic hypoglycemia (HH). The physiology of insulin secretion is discussed followed by the classification of the different subtypes of HH and then a detailed description of all the monogenic forms of HH. Novel forms of HH, such as...

ey0019.2-13 | Neonatal diabetes mellitus | ESPEYB19

2.13. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene

AK Elsayed , S Al-Khawaga , K Hussain , EM Abdelalim

Stem Cell Res. 2021 Jul;54:102433. doi: 10.1016/j.scr.2021.102433. PMID: 34171785.Brief Summary: This study generated induced pluripotent stem cells (iPSCs) from a patient with permanent neonatal diabetes mellitus (PNDM) due to Fanconi-Bickel syndrome. This iPSC line provides a novel human cell model to understand the pathophysiology of FBS and diabetes mellitus and for the potential of dev...

ey0017.2-12 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.12. Ion Transporters, channelopathies, and glucose disorders

H Demirbilek , S Galcheva , D Vuralli , S Al-Khawaga , K Hussain

To read the full abstract: Int J Mol Sci. 2019 May 27;20(10). pii: E2590. doi: 10.3390/ijms20102590. PMID:31137773.Ion channels and transporters play essential roles in excitable cells, including cardiac, skeletal and smooth muscle cells, neurons, and endocrine cells. In pancreatic beta-cells, KATPchannels link the metabolic signals generated inside the cell to changes in the beta-cell membra...

ey0017.2-10 | Neonatal Diabetes Mellitus | ESPEYB17

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

S Al-Khawaga , I Mohammed , S Saraswathi , B Haris , R Hasnah , A Saeed , H Almabrazi , N Syed , P Jithesh , A El Awwa , A Khalifa , F AlKhalaf , G Petrovski , EM Abdelalim , K Hussain

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...