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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK; INFORM RARE Network. Howie AH, et al. Among authors: mamak e. Orphanet J Rare Dis. 2024 Oct 23;19(1):393. doi: 10.1186/s13023-024-03364-x. Orphanet J Rare Dis. 2024. PMID: 39443985 Free PMC article. Review.
Seizure Burden and Neurologic Outcomes After Neonatal Encephalopathy.
Alharbi HM, Pinchefsky EF, Tran MA, Salazar Cerda CI, Parokaran Varghese J, Kamino D, Widjaja E, Mamak E, Ly L, Nevalainen P, Hahn CD, Tam EWY. Alharbi HM, et al. Among authors: mamak e. Neurology. 2023 May 9;100(19):e1976-e1984. doi: 10.1212/WNL.0000000000207202. Epub 2023 Mar 29. Neurology. 2023. PMID: 36990719 Free PMC article.
Chronic Iron Deficiency and Cognitive Function in Early Childhood.
Gingoyon A, Borkhoff CM, Koroshegyi C, Mamak E, Birken CS, Maguire JL, Fehlings D, Macarthur C, Parkin PC. Gingoyon A, et al. Among authors: mamak e. Pediatrics. 2022 Dec 1;150(6):e2021055926. doi: 10.1542/peds.2021-055926. Pediatrics. 2022. PMID: 36412051
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A. Dvaladze A, et al. Among authors: mamak e. Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14. Clin Genet. 2022. PMID: 35916082
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. Kovac V, et al. Among authors: mamak eg. Mol Genet Metab. 2022 Feb;135(2):122-132. doi: 10.1016/j.ymgme.2022.01.001. Epub 2022 Jan 7. Mol Genet Metab. 2022. PMID: 35012890 Free PMC article.
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak E, Mhanni A, Skidmore B, Sparkes R, Stockler S, Potter BK; INFORM RARE Network. Howie AH, et al. Among authors: mamak e. Trials. 2021 Dec 9;22(1):893. doi: 10.1186/s13063-021-05893-3. Trials. 2021. PMID: 34886877 Free PMC article. No abstract available.
25 results