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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...

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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...

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ESPE Yearbook of Paediatric Endocrinology

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

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

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