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Publications
Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. Genet Med. 2021 Nov;23(11):2067-75. doi: 10.1038/s41436-021-01259-x
Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey, Jr DB. Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment. Genet Med. 2018 Feb;20(2):181-9. doi: 10.1038/gim.2017.93
Ribeiro-Oliveira Jr A, Mol SS, Twiss J, Alencar GA, Miranda PA, Naves LA, Azevedo MF, Basilio FM, Boguszewski CL, Nogueira KC, Vilar L, Koltowska-Haggstrom M, McKenna SP. The brazilian version of the Quality of Life Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA): four-stage translation and validation. Arq Bras Endocrinol Metabol. 2010 Dec;54(9):833-41.