Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c

Autor: Brunkhorst, Max ^{1, 26}, Brunkhorst, Lena ^{1, 26}, Martens, Helge ², Papizh, Svetlana ³, Besouw, Martine ⁴, Grasemann, Corinna ⁵, Turan, Serap ⁶, Sikora, Przemyslaw ⁷, Chromek, Milan ^{8, 9}, Cornelissen, Elisabeth ¹⁰, Fila, Marc ¹¹, Lilien, Marc ¹², Allgrove, Jeremy ¹³, Neuhaus, Thomas J. ¹⁴, Eltan, Mehmet ⁶, Espinosa, Laura ¹⁵, Schnabel, Dirk ¹⁶, Gokce, Ibrahim ¹⁷, González-Rodríguez, Juan David ¹⁸, Khandelwal, Priyanka ¹⁹, Keijzer-Veen, Mandy G. ²⁰, Lechner, Felix ²¹, Szczepańska, Maria ²², Zaniew, Marcin ²³, Bacchetta, Justine ²⁴, Emma, Francesco ²⁵, Haffner, Dieter ^{1, ∗}

Publikováno v: In Kidney International January 2025 107(1):116-129

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease

Autor: Zhang, Le, El-Shabrawi, Mortada, Baur, Louise A., Byrne, Christopher D., Targher, Giovanni, Kehar, Mohit, Porta, Gilda, Lee, Way Seah, Lefere, Sander, Turan, Serap, Alisi, Anna, Weiss, Ram, Faienza, Maria Felicia, Ashraf, Ambika, Sundaram, Shikha S., Srivastava, Anshu, De Bruyne, Ruth, Kang, Yunkoo, Bacopoulou, Flora, Zhou, Yong-Hai, Darma, Andy, Lupsor-Platon, Monica, Hamaguchi, Masahide, Misra, Anoop, Méndez-Sánchez, Nahum, Ng, Nicholas Beng Hui, Marcus, Claude, Staiano, Amanda E., Waheed, Nadia, Alqahtani, Saleh A., Giannini, Cosimo, Ocama, Ponsiano, Nguyen, Mindie H., Arias-Loste, Maria Teresa, Ahmed, Mohamed Rabea, Sebastiani, Giada, Poovorawan, Yong, Al Mahtab, Mamun, Pericàs, Juan M., Reverbel da Silveira, Themis, Hegyi, Peter, Azaz, Amer, Isa, Hasan M., Lertudomphonwanit, Chatmanee, Farrag, Mona Issa, Nugud, Ahmed Abd Alwahab, Du, Hong-Wei, Qi, Ke-Min, Mouane, Nezha, Cheng, Xin-Ran, Al Lawati, Tawfiq, Fagundes, Eleonora D.T., Ghazinyan, Hasmik, Hadjipanayis, Adamos, Fan, Jian-Gao, Gimiga, Nicoleta, Kamal, Naglaa M., Ștefănescu, Gabriela, Hong, Li, Diaconescu, Smaranda, Li, Ming, George, Jacob, Zheng, Ming-Hua

Publikováno v: In Med 12 July 2024 5(7):797-815

A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

Autor: Campbell, Devon, Reyes, Monica, Kaygusuz, Sare Betul, Abali, Saygın, Guran, Tulay, Bereket, Abdullah, Kagami, Masayo, Turan, Serap, Jüppner, Harald

Publikováno v: In Bone April 2022 157

Endocrine disrupting chemicals and bone

Autor: Turan, Serap

Publikováno v: In Best Practice & Research Clinical Endocrinology & Metabolism September 2021 35(5)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Autor: Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward ^*

Publikováno v: In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605