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71 results

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium. Hahn SH, et al. Among authors: leslie nd. Genet Med. 2018 Oct;20(10):1284-1294. doi: 10.1038/gim.2018.2. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565424 Free article. Clinical Trial.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium. Kishnani PS, et al. Among authors: leslie nd. Genet Med. 2019 Nov;21(11):2543-2551. doi: 10.1038/s41436-019-0527-9. Epub 2019 May 14. Genet Med. 2019. PMID: 31086307 Free PMC article.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. Duong T, et al. Among authors: leslie nd. J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784. J Neuromuscul Dis. 2022. PMID: 36214004 Free PMC article.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: leslie nd. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Free PMC article. Review. No abstract available.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY; Pompe ADVANCE Study Consortium. Byrne BJ, et al. Among authors: leslie nd. Cardiol Young. 2022 Mar;32(3):364-373. doi: 10.1017/S1047951121002079. Epub 2021 Aug 23. Cardiol Young. 2022. PMID: 34420548 Clinical Trial.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Prada CE, et al. Among authors: leslie nd. Mol Genet Metab. 2012 Aug;106(4):482-4. doi: 10.1016/j.ymgme.2012.06.005. Epub 2012 Jun 15. Mol Genet Metab. 2012. PMID: 22728053
Participant choices for return of genomic results in the eMERGE Network.
Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA, Chung WK, Connolly JJ, Freimuth RR, Kochan D, Hakonarson H, Harr M, Holm IA, Kullo IJ, Lammers PE, Leppig KA, Leslie ND, Myers MF, Sharp RR, Smith ME, Prows CA. Hoell C, et al. Among authors: leslie nd. Genet Med. 2020 Nov;22(11):1821-1829. doi: 10.1038/s41436-020-0905-3. Epub 2020 Jul 16. Genet Med. 2020. PMID: 32669677 Free PMC article.
71 results