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118 results
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Genomics, intellectual disability, and autism.
Mefford HC, Batshaw ML, Hoffman EP. Mefford HC, et al. N Engl J Med. 2012 Feb 23;366(8):733-43. doi: 10.1056/NEJMra1114194. N Engl J Med. 2012. PMID: 22356326 Free PMC article. Review. No abstract available.
Cognitive outcome in urea cycle disorders.
Gropman AL, Batshaw ML. Gropman AL, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. doi: 10.1016/j.ymgme.2003.11.016. Mol Genet Metab. 2004. PMID: 15050975 Review.
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
Gropman AL, Fricke ST, Seltzer RR, Hailu A, Adeyemo A, Sawyer A, van Meter J, Gaillard WD, McCarter R, Tuchman M, Batshaw M; Urea Cycle Disorders Consortium. Gropman AL, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):21-30. doi: 10.1016/j.ymgme.2008.06.003. Epub 2008 Jul 26. Mol Genet Metab. 2008. PMID: 18662894 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. 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.
Alternative pathway or diversion therapy for urea cycle disorders now and in the future.
Cederbaum S, Lemons C, Batshaw ML. Cederbaum S, et al. Mol Genet Metab. 2010 Jul;100(3):219-20. doi: 10.1016/j.ymgme.2010.04.008. Epub 2010 Apr 22. Mol Genet Metab. 2010. PMID: 20462778 No abstract available.
Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders.
Krivitzky L, Babikian T, Lee HS, Thomas NH, Burk-Paull KL, Batshaw ML. Krivitzky L, et al. Pediatr Res. 2009 Jul;66(1):96-101. doi: 10.1203/PDR.0b013e3181a27a16. Pediatr Res. 2009. PMID: 19287347 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; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Tuchman M, et al. 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. Clinical Trial.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Waisbren SE, Gropman AL; Members of theĀ Urea Cycle Disorders Consortium (UCDC), Batshaw ML. Waisbren SE, et al. Among authors: batshaw ml. J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23. J Inherit Metab Dis. 2016. PMID: 27215558 Free PMC article.
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