High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor

por Saeed, Sadia, Khanam, Roohia, Janjua, Qasim M., Manzoor, Jaida, Ning, Lijiao, Hanook, Sharoon, Canouil, Mickaël, Ali, Muhammad, Ayesha, Hina, Khan, Waqas I., Farooqi, I. Sadaf, Yeo, Giles S.H., O'Rahilly, Stephen, Bonnefond, Amélie, Butt, Taeed A., Arslan, Muhammad, Froguel, Philippe
Publicado 2023

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

por Raimondo, Anne, Chakera, Ali J., Thomsen, Soren K., Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E., Van De Bunt, Martijn, Hattersley, Andrew T., Gloyn, Anna L., Ellard, Sian, Abduljabbar, Mohammad A., Al-Zyoud, Mahmoud, Aman, Syed, Bath, Louise, De, Parijat, Deshpande, Neeta, Durmaz, Erdem, Eickmeier, Frank, Elbarbary, Nancy Samir, Fillion, Marc, Jagadeesh, Sujatha M., Kershaw, Melanie, Khan, Waqas I., Mlynarski, Wojciech, Noyes, Kathryn, Peters, Catherine J., Shaw, Nick, Tiron, Irina, Turkkahraman, Doga, Turner, Lesley, Eltonbary, Khadiga Y., Yuksel, Bilgin
Publicado 2014