Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
2024; Elsevier BV; Volume: 27; Issue: 1 Linguagem: Inglês
10.1016/j.gim.2024.101273
ISSN1530-0366
AutoresDaniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S. Abdel‐Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya N. Murali, Varun Kannan, Timothy Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stéphanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A. Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Amber Begtrup, Houda Zghal Elloumi, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Haowei Du, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance H. Rodan, Sedat Işıkay, Jill A. Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C. Oberg, Robin D. Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Ali Mardi, Feyzollah Hashemi‐Gorji, Ebtesam Abdalla, M. Chiara Manzini, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Henry Houlden, Fowzan S. Alkuraya, Kinga M. Bujakowska, Reza Maroofian, James R. Lupski, Long N. Nguyen,
Tópico(s)Diet and metabolism studies
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