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Year Number of Results
2006 1
2007 1
2008 1
2009 1
2012 1
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2014 3
2018 1
2019 1
2020 1
2021 1
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Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Among authors: leoyklang p. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.
Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB. Huizing M, et al. Among authors: leoyklang p. Kidney Int Rep. 2019 Jun 25;4(10):1454-1462. doi: 10.1016/j.ekir.2019.06.012. eCollection 2019 Oct. Kidney Int Rep. 2019. PMID: 31701055 Free PMC article.
Non-specific accumulation of glycosphingolipids in GNE myopathy.
Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD. Patzel KA, et al. Among authors: leoyklang p. J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18. J Inherit Metab Dis. 2014. PMID: 24136589 Free PMC article.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
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. Carrillo N, et al. Among authors: leoyklang p. Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01259-x. Online ahead of print. Genet Med. 2021. PMID: 34257421
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