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Page 1
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Among authors: giezen a. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. Orphanet J Rare Dis. 2020. PMID: 32276663 Free PMC article.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv N, Potter BK, Stockler S, Ueda K, Giezen A, Cheng B, Langley E, Ratko S, Austin V, Chapman M, Chakraborty P, Collet JP, Pender A; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Yuskiv N, et al. Among authors: giezen a. Orphanet J Rare Dis. 2019 Jan 8;14(1):7. doi: 10.1186/s13023-018-0978-0. Orphanet J Rare Dis. 2019. PMID: 30621767 Free PMC article.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Stockler-Ipsiroglu S, et al. Among authors: giezen a. Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3. Mol Genet Metab. 2015. PMID: 25497838 Free article.
Metabolic Diet App Suite for inborn errors of amino acid metabolism.
Ho G, Ueda K, Houben RF, Joa J, Giezen A, Cheng B, van Karnebeek CD. Ho G, et al. Among authors: giezen a. Mol Genet Metab. 2016 Mar;117(3):322-7. doi: 10.1016/j.ymgme.2015.12.007. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26748688 Free article.
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. van Karnebeek CD, et al. Among authors: giezen a. JIMD Rep. 2014;15:1-11. doi: 10.1007/8904_2014_296. Epub 2014 Apr 19. JIMD Rep. 2014. PMID: 24748525 Free PMC article.
Identifying effect modifiers of systemic hydrocortisone treatment initiated 7-14 days after birth in ventilated very preterm infants on long-term outcome: secondary analysis of a randomised controlled trial.
Halbmeijer NM, Sonnaert M, Swarte RM, Koopman-Esseboom C, van Stuijvenberg M, Mulder-de Tollenaer S, Tan RNGB, Mohns T, Bruneel E, Steiner K, Kramer BW, Debeer A, van Weissenbruch MM, Marechal Y, Blom H, Plaskie K, Offringa M, Merkus MP, Onland W, Leemhuis AG, van Kaam AH; SToP-BPD Study group. Halbmeijer NM, et al. Arch Dis Child Fetal Neonatal Ed. 2024 Feb 19;109(2):159-165. doi: 10.1136/archdischild-2023-325558. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 37722765 Clinical Trial.
30 results