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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. Among authors: mccarter r. 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.
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: mccarter rj. 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.
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors.
Moscioni D, Morizono H, McCarter RJ, Stern A, Cabrera-Luque J, Hoang A, Sanmiguel J, Wu D, Bell P, Gao GP, Raper SE, Wilson JM, Batshaw ML. Moscioni D, et al. Mol Ther. 2006 Jul;14(1):25-33. doi: 10.1016/j.ymthe.2006.03.009. Epub 2006 May 3. Mol Ther. 2006. PMID: 16677864 Free article.
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Sen K, et al. Among authors: mccarter rj. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. Mol Genet Genomic Med. 2024. PMID: 38634223 Free PMC article. Review.
319 results