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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: stockler s. 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.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Khangura SD, et al. BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. BMC Pediatr. 2015. PMID: 25886474 Free PMC article. Review.
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
Khangura SD, Tingley K, Chakraborty P, Coyle D, Kronick JB, Laberge AM, Little J, Miller FA, Mitchell JJ, Prasad C, Siddiq S, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Trakadis Y, Wilson BJ, Wilson K, Potter BK; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Khangura SD, et al. J Inherit Metab Dis. 2016 Jan;39(1):139-47. doi: 10.1007/s10545-015-9881-1. Epub 2015 Jul 25. J Inherit Metab Dis. 2016. PMID: 26209272 Free PMC article.
Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; challenges associated with the affected child's life transitions, and; the collective struggle for improved outcomes and interventions …
Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; c …
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL. Hamdan FF, et al. Among authors: stockler s. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Child Neurology: Krabbe disease: a potentially treatable white matter disorder.
Gelinas J, Liao P, Lehman A, Stockler S, Sirrs S. Gelinas J, et al. Neurology. 2012 Nov 6;79(19):e170-2. doi: 10.1212/WNL.0b013e3182735c8b. Neurology. 2012. PMID: 23128445 No abstract available.
Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: clinical and biochemical insights from infant rats.
Schutz PW, Struys EA, Sinclair G, Stockler S. Schutz PW, et al. Mol Genet Metab. 2011 Jun;103(2):179-84. doi: 10.1016/j.ymgme.2011.02.015. Epub 2011 Feb 26. Mol Genet Metab. 2011. PMID: 21439874
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Clinical Trial.
The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.
van Karnebeek CD, Houben RF, Lafek M, Giannasi W, Stockler S. van Karnebeek CD, et al. Orphanet J Rare Dis. 2012 Jul 23;7:47. doi: 10.1186/1750-1172-7-47. Orphanet J Rare Dis. 2012. PMID: 22824307 Free PMC article.
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Coulter-Mackie MB, Li A, Lian Q, Struys E, Stockler S, Waters PJ. Coulter-Mackie MB, et al. Mol Genet Metab. 2012 Aug;106(4):478-81. doi: 10.1016/j.ymgme.2012.06.008. Epub 2012 Jun 22. Mol Genet Metab. 2012. PMID: 22784480
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