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Hydroxocobalamin dose escalation improves metabolic control in cblC.
Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Carrillo-Carrasco N, et al. 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.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group; Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Sloan JL, et al. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.
Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy.
Chandler RJ, LaFave MC, Varshney GK, Trivedi NS, Carrillo-Carrasco N, Senac JS, Wu W, Hoffmann V, Elkahloun AG, Burgess SM, Venditti CP. Chandler RJ, et al. Among authors: carrillo carrasco n. J Clin Invest. 2015 Feb;125(2):870-80. doi: 10.1172/JCI79213. Epub 2015 Jan 20. J Clin Invest. 2015. PMID: 25607839 Free PMC article.
Atypical presentation of GNE myopathy with asymmetric hand weakness.
de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N. de Dios JK, et al. Among authors: carrillo carrasco n. Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7. Neuromuscul Disord. 2014. PMID: 25182749 Free PMC article.
19 results