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Page 1
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R. Stockler-Ipsiroglu S, et al. Among authors: yuskiv n. JIMD Rep. 2021 Mar 8;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258138 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: yuskiv n. 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.
Developments in evidence creation for treatments of inborn errors of metabolism.
Stockler-Ipsiroglu S, Potter BK, Yuskiv N, Tingley K, Patterson M, van Karnebeek C. Stockler-Ipsiroglu S, et al. Among authors: yuskiv n. J Inherit Metab Dis. 2021 Jan;44(1):88-98. doi: 10.1002/jimd.12315. Epub 2020 Oct 4. J Inherit Metab Dis. 2021. PMID: 32944978 Free PMC article. Review.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Among authors: yuskiv n. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530 Free article.
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: yuskiv n. 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. 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.
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, Tessier L, Chakraborty P, Coyle D, Dyack S, Gillis J, Greenberg C, Hayeems RZ, Jain-Ghai S, Kronick JB, Laberge AM, Little J, Mitchell JJ, Prasad C, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wafa S, Walia J, Wilson K, Yuskiv N, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Siddiq S, et al. Among authors: yuskiv n. Orphanet J Rare Dis. 2016 Dec 7;11(1):168. doi: 10.1186/s13023-016-0548-2. Orphanet J Rare Dis. 2016. PMID: 27927250 Free PMC article.
16 results