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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Sen K, et al. Among authors: mccarter rj. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. Mol Genet Genomic Med. 2024. PMID: 38634223 Free PMC article. Review.
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U; Members of the Urea Cycle Disorders Consortium; Burrage LC, Nagamani SCS. Murali CN, et al. Mol Genet Metab. 2023 Nov;140(3):107696. doi: 10.1016/j.ymgme.2023.107696. Epub 2023 Sep 8. Mol Genet Metab. 2023. PMID: 37690181 Review.
Cardiometabolic risk in young adults with Down syndrome.
Manfredo J, Capone G, Yanek L, McCarter R, Zemel B, Kelly A, Magge SN. Manfredo J, et al. Am J Med Genet A. 2023 Jul;191(7):1758-1768. doi: 10.1002/ajmg.a.63197. Epub 2023 Mar 31. Am J Med Genet A. 2023. PMID: 37000612
Significant life extension by ten percent dietary restriction.
Richardson A, Austad SN, Ikeno Y, Unnikrishnan A, McCarter RJ. Richardson A, et al. Among authors: mccarter rj. Ann N Y Acad Sci. 2016 Jan;1363(1):11-7. doi: 10.1111/nyas.12982. Epub 2015 Dec 22. Ann N Y Acad Sci. 2016. PMID: 26695614 Free PMC article.
Initial report of the osteogenesis imperfecta adult natural history initiative.
Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ, Simpson MD, Tucker CA, McKiernan FE. Tosi LL, et al. Among authors: mccarter rj. Orphanet J Rare Dis. 2015 Nov 14;10:146. doi: 10.1186/s13023-015-0362-2. Orphanet J Rare Dis. 2015. PMID: 26578084 Free PMC article.
132 results