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Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases.
Epps C, Bax R, Croker A, Green D, Gropman A, Klein AV, Landry H, Pariser A, Rosenman M, Sakiyama M, Sato J, Sen K, Stone M, Takeuchi F, Davis JM. Epps C, et al. Among authors: gropman a. Ther Innov Regul Sci. 2022 Nov;56(6):964-975. doi: 10.1007/s43441-022-00409-w. Epub 2022 Apr 26. Ther Innov Regul Sci. 2022. PMID: 35471559 Free PMC article. Review.
Neuromonitoring in Rare Disorders of Metabolism.
Castillo-Pinto C, Sen K, Gropman A. Castillo-Pinto C, et al. Among authors: gropman a. Yale J Biol Med. 2021 Dec 29;94(4):645-655. eCollection 2021 Dec. Yale J Biol Med. 2021. PMID: 34970103 Free PMC article. Review.
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Priestley JRC, et al. Among authors: gropman a. Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420423 Free PMC article.
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: gropman al. 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.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Among authors: gropman a. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
274 results