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41 results

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Page 1
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: inbar feigenberg m. 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.
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. Muenzer J, et al. Among authors: inbar feigenberg m. J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39252529
Family-centred care interventions for children with chronic conditions: A scoping review.
Chow AJ, Saad A, Al-Baldawi Z, Iverson R, Skidmore B, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J, Cohen E, Dyack S, Gillis J, Goobie S, Greenberg CR, Hayeems R, Hutton B, Inbar-Feigenberg M, Jain-Ghai S, Khangura S, MacKenzie JJ, Mitchell JJ, Moazin Z, Nicholls SG, Pender A, Prasad C, Schulze A, Siriwardena K, Sparkes RN, Speechley KN, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, Van Karnebeek C, Walia JS, Wilson K, Potter BK. Chow AJ, et al. Among authors: inbar feigenberg m. Health Expect. 2024 Feb;27(1):e13897. doi: 10.1111/hex.13897. Health Expect. 2024. PMID: 39102737 Free PMC article. Review.
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: inbar feigenberg m. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF. Allen JP, et al. Among authors: inbar feigenberg m. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: inbar feigenberg m. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; HGT-HIT-094 Study Group. Muenzer J, et al. Among authors: inbar feigenberg m. Mol Genet Metab. 2023 Nov;140(3):107645. doi: 10.1016/j.ymgme.2023.107645. Epub 2023 Aug 3. Mol Genet Metab. 2023. PMID: 37541906 No abstract available.
Corrigendum to "Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II".
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; SHP609-302 study group. Muenzer J, et al. Among authors: inbar feigenberg m. Mol Genet Metab. 2023 Nov;140(3):107646. doi: 10.1016/j.ymgme.2023.107646. Epub 2023 Jul 29. Mol Genet Metab. 2023. PMID: 37517985 No abstract available.
41 results