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Page 1
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.
Raina R, Bedoyan JK, Lichter-Konecki U, Jouvet P, Picca S, Mew NA, Machado MC, Chakraborty R, Vemuganti M, Grewal MK, Bunchman T, Sethi SK, Krishnappa V, McCulloch M, Alhasan K, Bagga A, Basu RK, Schaefer F, Filler G, Warady BA. Raina R, et al. Among authors: mew na. Nat Rev Nephrol. 2020 Aug;16(8):471-482. doi: 10.1038/s41581-020-0267-8. Epub 2020 Apr 8. Nat Rev Nephrol. 2020. PMID: 32269302 Free PMC article. Review.
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM; UCI-GREGoR Consortium; Xiao C, Délot EC, Berger SI, Vilain E. Pitsava G, et al. Among authors: mew na. medRxiv [Preprint]. 2025 Jun 18:2024.12.21.24318325. doi: 10.1101/2024.12.21.24318325. medRxiv. 2025. Update in: Genet Med. 2025 Sep 6;27(11):101574. doi: 10.1016/j.gim.2025.101574. PMID: 39763557 Free PMC article. Updated. Preprint.
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.
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Ekong UD, Reddy S, Yazigi N, Khan K, Kaufman S, Chapman KA, Leon E, Mew NA, Regier D, MacLeod E, Kroemer A, Girlanda R, Hawksworth J, Matsumoto CS, Fishbein TM. Ekong UD, et al. Among authors: mew na. Liver Transpl. 2022 Dec;28(12):1947-1950. doi: 10.1002/lt.26526. Epub 2022 Jul 17. Liver Transpl. 2022. PMID: 35689402 No abstract available.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: mew na. Genet Med. 2021 Aug;23(8):1522-1533. doi: 10.1038/s41436-021-01143-8. Epub 2021 Apr 5. Genet Med. 2021. PMID: 33820958 Free PMC article.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: mew na. Genet Med. 2021 Nov;23(11):2233. doi: 10.1038/s41436-021-01188-9. Genet Med. 2021. PMID: 33972722 Free PMC article. No abstract available.
19 results