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144 results

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Page 1
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: karall d. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: karall d. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: karall d. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection.
West EE, Merle NS, Kamiński MM, Palacios G, Kumar D, Wang L, Bibby JA, Overdahl K, Jarmusch AK, Freeley S, Lee DY, Thompson JW, Yu ZX, Taylor N, Sitbon M, Green DR, Bohrer A, Mayer-Barber KD, Afzali B, Kazemian M, Scholl-Buergi S, Karall D, Huemer M, Kemper C. West EE, et al. Among authors: karall d. Immunity. 2023 Sep 12;56(9):2036-2053.e12. doi: 10.1016/j.immuni.2023.07.014. Epub 2023 Aug 11. Immunity. 2023. PMID: 37572656 Free PMC article.
144 results