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Page 1
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: venditti cp. 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
Hydroxocobalamin dose escalation improves metabolic control in cblC.
Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Carrillo-Carrasco N, et al. Among authors: venditti cp. J Inherit Metab Dis. 2009 Dec;32(6):728-731. doi: 10.1007/s10545-009-1257-y. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821145 Free PMC article.
Renal growth in isolated methylmalonic acidemia.
Kruszka PS, Manoli I, Sloan JL, Kopp JB, Venditti CP. Kruszka PS, et al. Among authors: venditti cp. Genet Med. 2013 Dec;15(12):990-6. doi: 10.1038/gim.2013.42. Epub 2013 May 2. Genet Med. 2013. PMID: 23639900 Free PMC article.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. Yu HC, et al. Among authors: venditti cp. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022. Am J Hum Genet. 2013. PMID: 24011988 Free PMC article.
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP. Raval DB, et al. Among authors: venditti cp. J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567501 Free PMC article. Review.
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.
Ktena YP, Ramstad T, Baker EH, Sloan JL, Mannes AJ, Manoli I, Venditti CP. Ktena YP, et al. Among authors: venditti cp. J Inherit Metab Dis. 2015 Sep;38(5):847-53. doi: 10.1007/s10545-015-9816-x. Epub 2015 May 19. J Inherit Metab Dis. 2015. PMID: 25985870 Free PMC article. Review.
117 results