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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA. Larochelle J, et al. Among authors: scott cr. Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13. Mol Genet Metab. 2012. PMID: 22885033
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Blackburn PR, et al. Among authors: scott cr. Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8. Hum Mutat. 2016. PMID: 27397503 Free PMC article.
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ; International Collaborative Gaucher Group U.S. Regional Coordinators. Andersson HC, et al. Among authors: scott cr. Genet Med. 2005 Feb;7(2):105-10. doi: 10.1097/01.gim.0000153660.88672.3c. Genet Med. 2005. PMID: 15714077 Free article. Review.
Newborn Screening for Pompe Disease.
Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group. Bodamer OA, et al. Among authors: scott cr. Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C. Pediatrics. 2017. PMID: 29162673
230 results