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Page 1
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Free PMC article. Review.
Tuberous sclerosis complex.
Winden K, Bebin EM, Jeste S, Krueger DA, Paul E, Sahin M. Winden K, et al. Nat Rev Dis Primers. 2026 Mar 12;12(1):11. doi: 10.1038/s41572-026-00688-9. Nat Rev Dis Primers. 2026. PMID: 41820375 Review.
The central moTOR of metabolism.
Simcox J, Lamming DW. Simcox J, et al. Dev Cell. 2022 Mar 28;57(6):691-706. doi: 10.1016/j.devcel.2022.02.024. Epub 2022 Mar 21. Dev Cell. 2022. PMID: 35316619 Free PMC article. Review.
The adverse metabolic effects of branched-chain amino acids are mediated by isoleucine and valine.
Yu D, Richardson NE, Green CL, Spicer AB, Murphy ME, Flores V, Jang C, Kasza I, Nikodemova M, Wakai MH, Tomasiewicz JL, Yang SE, Miller BR, Pak HH, Brinkman JA, Rojas JM, Quinn WJ 3rd, Cheng EP, Konon EN, Haider LR, Finke M, Sonsalla M, Alexander CM, Rabinowitz JD, Baur JA, Malecki KC, Lamming DW. Yu D, et al. Cell Metab. 2021 May 4;33(5):905-922.e6. doi: 10.1016/j.cmet.2021.03.025. Epub 2021 Apr 21. Cell Metab. 2021. PMID: 33887198 Free PMC article.
162 results