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223 results

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Page 1
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Ah Mew N, et al. Among authors: diaz ga. Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031. Transl Sci Rare Dis. 2018. PMID: 30613471 Free PMC article.
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Additional members of Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Tuchman M, et al. Among authors: diaz ga. Mol Genet Metab. 2008 Aug;94(4):397-402. doi: 10.1016/j.ymgme.2008.05.004. Epub 2008 Jun 17. Mol Genet Metab. 2008. PMID: 18562231 Free PMC article.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Weisfeld-Adams JD, et al. Among authors: diaz ga. Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27. Mol Genet Metab. 2010. PMID: 19836982 Free PMC article.
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: diaz ga. 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.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL 2nd, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Diaz GA, et al. Hepatology. 2013 Jun;57(6):2171-9. doi: 10.1002/hep.26058. Epub 2013 Jan 3. Hepatology. 2013. PMID: 22961727 Free PMC article. Clinical Trial.
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.
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA. Weisfeld-Adams JD, et al. Among authors: diaz ga. Mol Genet Metab. 2013 Nov;110(3):241-7. doi: 10.1016/j.ymgme.2013.07.018. Epub 2013 Jul 25. Mol Genet Metab. 2013. PMID: 23954310
Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.
Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B. Berry SA, et al. Among authors: diaz ga. Mol Genet Metab. 2014 May;112(1):17-24. doi: 10.1016/j.ymgme.2014.02.007. Epub 2014 Feb 21. Mol Genet Metab. 2014. PMID: 24630270 Free PMC article. Clinical Trial.
223 results