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Page 1
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. Among authors: maranda b. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: maranda b. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
A case of hyperlysinemia identified by urine newborn screening.
Yeganeh M, Auray-Blais C, Maranda B, Sabovic A, DeVita RJ, Lazarus MB, Houten SM. Yeganeh M, et al. Among authors: maranda b. JIMD Rep. 2023 Oct 22;64(6):440-445. doi: 10.1002/jmd2.12399. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927488 Free PMC article.
Safety and efficacy of inhaled IBIO123 for mild-to-moderate COVID-19: a randomised, double-blind, dose-ascending, placebo-controlled, phase 1/2 trial.
Maranda B, Labbé SM, Lurquin M, Brabant P, Fugère A, Larrivée JF, Grbic D, Leroux A, Leduc F, Finzi A, Gaudreau S, Swart Y; IBIO-INH-001 Investigators. Maranda B, et al. Lancet Infect Dis. 2024 Jan;24(1):25-35. doi: 10.1016/S1473-3099(23)00393-6. Epub 2023 Aug 21. Lancet Infect Dis. 2024. PMID: 37619584 Clinical Trial.
80 results