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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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ey0020.9-7 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.7. Rare antagonistic leptin variants and severe, early-onset obesity

JB Funcke , B Moepps , J Roos , J von Schnurbein , K Verstraete , E Frohlich-Reiterer , K Kohlsdorf , A Nunziata , S Brandt , A Tsirigotaki , A Dansercoer , E Suppan , B Haris , KM Debatin , SN Savvides , IS Farooqi , K Hussain , P Gierschik , P Fischer-Posovszky , M Wabitsch

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

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ESPE Yearbook of Paediatric Endocrinology

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

9.7. Rare antagonistic leptin variants and severe, early-onset obesity

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