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Page 1
The incidence of urea cycle disorders.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.
Mol Genet Metab. 2013.
PMID: 23972786
Free PMC article.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC); Batshaw ML.
Waisbren SE, et al.
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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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.
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.
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B.
Burrage LC, et al.
JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342.
JCI Insight. 2020.
PMID: 31990680
Free PMC article.
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