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Page 1
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
Lipid emulsion therapy during management of the critically-ill poisoned patient: a prospective cohort study.
Levine M, Brent J, Wiegand T, Maguire B, Cohen N, Vaerrier D, Beuhler M, Leikin JB, Ganetsky M, Stellpflug S, Ruha AM, Carey J, Geib AJ, Cao DJ, Kleinschmidt K, Vohra R, Riley BD, Moore P, Schwarz E, Neavyn M, Rusyniak DE, Greene S, Nogar J, Manini A, Wermuth M, Pizon A, Hendrickson RG, Griswold M, Aldy K, Wax P, Spyres MB, Campleman S, Macdonald E, Finkelstein Y; Toxicology Investigators Consortium. Levine M, et al. Among authors: wermuth m. Clin Toxicol (Phila). 2023 Aug;61(8):584-590. doi: 10.1080/15563650.2023.2248372. Epub 2023 Sep 1. Clin Toxicol (Phila). 2023. PMID: 37655788 Review.
The Toxicology Investigators Consortium 2022 Annual Report.
Amaducci AM, Campleman SL, Li S, Karshenas DL, Spyres MB, Farrugia LA, Kang AM, Culbreth RE, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Amaducci AM, et al. J Med Toxicol. 2023 Oct;19(4):313-340. doi: 10.1007/s13181-023-00962-2. Epub 2023 Aug 29. J Med Toxicol. 2023. PMID: 37644342
The Toxicology Investigators Consortium Case Registry-the 2021 Annual Report.
Love JS, Karshenas DL, Spyres MB, Farrugia LA, Kang AM, Nguyen H, Campleman SL, Li S, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Love JS, et al. J Med Toxicol. 2022 Oct;18(4):267-296. doi: 10.1007/s13181-022-00910-6. Epub 2022 Sep 7. J Med Toxicol. 2022. PMID: 36070069 Free PMC article.
The Toxicology Investigators Consortium 2020 Annual Report.
Spyres MB, Aldy K, Farrugia LA, Kang AM, Love JS, Campleman SL, Li S, Amaducci A, Schwarz E, Wax PM, Brent J; Toxicology Investigators Consortium Study Group. Spyres MB, et al. J Med Toxicol. 2021 Oct;17(4):333-362. doi: 10.1007/s13181-021-00854-3. Epub 2021 Sep 17. J Med Toxicol. 2021. PMID: 34535889 Free PMC article.
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Rymen D, et al. Among authors: wermuth m. Genet Med. 2020 Oct;22(10):1589-1597. doi: 10.1038/s41436-020-0933-z. Epub 2020 Aug 21. Genet Med. 2020. PMID: 32820246 Free article.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: wermuth m. Hum Mol Genet. 2020 Mar 27;29(5):877-878. doi: 10.1093/hmg/ddz173. Hum Mol Genet. 2020. PMID: 32027362 Free PMC article. No abstract available.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: wermuth m. Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. Hum Mol Genet. 2019. PMID: 31127942 Free PMC article.
20 results