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Reinstitution of pegvaliase therapy during lactation.
Rohr F, Wessel A, Harding CO, Waisbren SE, Viau K, Kritzer A. Rohr F, et al. Among authors: waisbren se. Mol Genet Metab Rep. 2022 Nov 17;33:100938. doi: 10.1016/j.ymgmr.2022.100938. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420422 Free PMC article.
The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings.
Rohr F, Munier A, Sullivan D, Bailey I, Gennaccaro M, Levy H, Brereton H, Gleason S, Goss B, Lesperance E, Moseley K, Singh R, Tonyes L, Vespa H, Waisbren S. Rohr F, et al. J Inherit Metab Dis. 2004;27(2):145-55. doi: 10.1023/B:BOLI.0000028785.20901.d9. J Inherit Metab Dis. 2004. PMID: 15159645 Clinical Trial.
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Seminara J, et al. Among authors: waisbren s. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S97-105. doi: 10.1016/j.ymgme.2010.01.014. Epub 2010 Feb 10. Mol Genet Metab. 2010. PMID: 20188616 Free PMC article. Review.
The adult galactosemic phenotype.
Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. Waisbren SE, et al. J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21. J Inherit Metab Dis. 2012. PMID: 21779791 Free PMC article.
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.
Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O'Brian Smith E, Marini JC; Members of the Urea Cycle Disorders Consortium; Lee B. Nagamani SC, et al. Mol Genet Metab. 2012 Nov;107(3):315-21. doi: 10.1016/j.ymgme.2012.09.016. Epub 2012 Sep 17. Mol Genet Metab. 2012. PMID: 23040521 Free PMC article. Clinical Trial.
133 results