Lee B - Search Results

1

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Almannai M, et al. Among authors: lee b. Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29. Mol Genet Metab. 2017. PMID: 28693988 Free PMC article.

2

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.

Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B. Scaglia F, et al. Among authors: lee b. Pediatrics. 2002 Jan;109(1):150-2. doi: 10.1542/peds.109.1.150. Pediatrics. 2002. PMID: 11773558

3

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Among authors: lee b. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

4

Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers.

Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Scaglia F, et al. Among authors: lee b. Am J Clin Nutr. 2003 Oct;78(4):749-55. doi: 10.1093/ajcn/78.4.749. Am J Clin Nutr. 2003. PMID: 14522733

5

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Among authors: lee b. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

6

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.

7

Toxicity and adaptive immune response to intracellular transgenes delivered by helper-dependent vs. first generation adenoviral vectors.

Mian A, Guenther M, Finegold M, Ng P, Rodgers J, Lee B. Mian A, et al. Among authors: lee b. Mol Genet Metab. 2005 Mar;84(3):278-88. doi: 10.1016/j.ymgme.2004.11.005. Epub 2004 Dec 29. Mol Genet Metab. 2005. PMID: 15694178

8

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. Napierala D, et al. Among authors: lee b. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68. doi: 10.1016/j.ymgme.2005.07.012. Mol Genet Metab. 2005. PMID: 16140555

9

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.

10

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.

Scaglia F, Lee B. Scaglia F, et al. Among authors: lee b. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602094 Free PMC article. Review.

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