Lee B - Search Results

1

Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.

Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Ferriero R, et al. Among authors: lee b. Sci Transl Med. 2013 Mar 6;5(175):175ra31. doi: 10.1126/scitranslmed.3004986. Sci Transl Med. 2013. PMID: 23467562 Free PMC article.

2

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.

Brunetti-Pierri N, Mendoza-Londono R, Shah MR, Karaviti L, Lee B. Brunetti-Pierri N, et al. Among authors: lee b. Am J Med Genet A. 2004 Apr 30;126A(3):299-302. doi: 10.1002/ajmg.a.20593. Am J Med Genet A. 2004. PMID: 15054846 Review.

3

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Scaglia F, et al. Among authors: lee b. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. J Nutr. 2004. PMID: 15465784 Free article. Review.

4

Gene therapy for inborn errors of liver metabolism.

Brunetti-Pierri N, Lee B. Brunetti-Pierri N, et al. Among authors: lee b. Mol Genet Metab. 2005 Sep-Oct;86(1-2):13-24. doi: 10.1016/j.ymgme.2005.07.015. Mol Genet Metab. 2005. PMID: 16154372 Review.

5

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Lanpher B, Brunetti-Pierri N, Lee B. Lanpher B, et al. Among authors: lee b. Nat Rev Genet. 2006 Jun;7(6):449-60. doi: 10.1038/nrg1880. Nat Rev Genet. 2006. PMID: 16708072 Review.

6

Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

Cerullo V, Seiler MP, Mane V, Brunetti-Pierri N, Clarke C, Bertin TK, Rodgers JR, Lee B. Cerullo V, et al. Among authors: lee b. Mol Ther. 2007 Feb;15(2):378-85. doi: 10.1038/sj.mt.6300031. Mol Ther. 2007. PMID: 17235317 Free article.

7

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M. Brunetti-Pierri N, et al. Among authors: lee b. Am J Med Genet A. 2008 May 1;146A(9):1230-3. doi: 10.1002/ajmg.a.32303. Am J Med Genet A. 2008. PMID: 18386804 Free PMC article. No abstract available.

8

Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors.

Brunetti-Pierri N, Clarke C, Mane V, Palmer DJ, Lanpher B, Sun Q, O'Brien W, Lee B. Brunetti-Pierri N, et al. Among authors: lee b. J Gene Med. 2008 Aug;10(8):890-6. doi: 10.1002/jgm.1218. J Gene Med. 2008. PMID: 18563850 Free PMC article.

9

Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector.

Gau CL, Rosenblatt RA, Cerullo V, Lay FD, Dow AC, Livesay J, Brunetti-Pierri N, Lee B, Cederbaum SD, Grody WW, Lipshutz GS. Gau CL, et al. Among authors: lee b. Mol Ther. 2009 Jul;17(7):1155-63. doi: 10.1038/mt.2009.65. Epub 2009 Apr 14. Mol Ther. 2009. PMID: 19367256 Free PMC article.

10

Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?

Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. Brunetti-Pierri N, et al. Among authors: lee b. Mol Genet Metab. 2009 Sep-Oct;98(1-2):195-7. doi: 10.1016/j.ymgme.2009.06.006. Epub 2009 Jun 13. Mol Genet Metab. 2009. PMID: 19592285 Free PMC article.

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