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Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N. Trakadis YJ, et al. Among authors: prasad c. J Inherit Metab Dis. 2014 May;37(3):461-73. doi: 10.1007/s10545-013-9664-5. Epub 2013 Dec 5. J Inherit Metab Dis. 2014. PMID: 24305960
Transcobalamin (TC) deficiency and newborn screening.
Prasad C, Cairney AE, Rosenblatt DS, Rupar CA. Prasad C, et al. J Inherit Metab Dis. 2012 Jul;35(4):727. doi: 10.1007/s10545-011-9431-4. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167278 No abstract available.
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. Among authors: prasad c. 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.
855 results