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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.

J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23.


Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm.

Chapuy CI, Sahai I, Sharma R, Zhu AX, Kozyreva ON.

Oncologist. 2016 Apr;21(4):514-20. doi: 10.1634/theoncologist.2015-0267. Epub 2016 Mar 14.


Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL 2nd, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):29-34. doi: 10.1016/j.ymgme.2015.08.002. Epub 2015 Aug 5.


Antepartum ornithine transcarbamylase deficiency.

Nakajima H, Sasaki Y, Maeda T, Takeda M, Hara N, Nakanishi K, Urita Y, Hattori R, Miura K, Taniguchi T.

Case Rep Gastroenterol. 2014 Nov 5;8(3):337-45. doi: 10.1159/000369131. eCollection 2014 Sep-Dec.


Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans.

Lennerz BS, Vafai SB, Delaney NF, Clish CB, Deik AA, Pierce KA, Ludwig DS, Mootha VK.

Mol Genet Metab. 2015 Jan;114(1):73-9. doi: 10.1016/j.ymgme.2014.11.010. Epub 2014 Nov 15.


Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy.

Hu C, Tai DS, Park H, Cantero G, Chan E, Yudkoff M, Cederbaum SD, Lipshutz GS.

Gene Ther. 2015 Feb;22(2):111-5. doi: 10.1038/gt.2014.106. Epub 2014 Dec 4. Erratum in: Gene Ther. 2015 Feb;22(2):216. Gene Ther. 2015 Feb;22(2):216. Cantero-Nieto, G [corrected to Cantero, G].


A longitudinal study of urea cycle disorders.

Batshaw ML, Tuchman M, Summar M, Seminara J; Members of the Urea Cycle Disorders Consortium..

Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30. doi: 10.1016/j.ymgme.2014.08.001. Epub 2014 Aug 10. Review.


A zebrafish model of hyperammonemia.

Feldman B, Tuchman M, Caldovic L.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):142-7. doi: 10.1016/j.ymgme.2014.07.001. Epub 2014 Jul 10.


Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

Mew NA, Yudkoff M, Tuchman M.

J Pediatr Biochem. 2014 Jan 1;4(1):57-63.


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.

Mol Genet Metab. 2014 May;112(1):17-24. doi: 10.1016/j.ymgme.2014.02.007. Epub 2014 Feb 21.


Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders.

Monteleone JP, Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Berry SA, Lemons C, Dickinson K, Coakley D, Lee B, Scharschmidt BF.

J Clin Pharmacol. 2013 Jul;53(7):699-710. doi: 10.1002/jcph.92. Epub 2013 Jun 15.


Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B.

J Pediatr. 2013 Jun;162(6):1228-34, 1234.e1. doi: 10.1016/j.jpeds.2012.11.084. Epub 2013 Jan 13.


A current review of the diagnostic and treatment strategies of hepatic encephalopathy.

Poh Z, Chang PE.

Int J Hepatol. 2012;2012:480309. doi: 10.1155/2012/480309. Epub 2012 Oct 21.


Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF.

Mol Genet Metab. 2012 Nov;107(3):308-14. doi: 10.1016/j.ymgme.2012.08.006. Epub 2012 Aug 18.


Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome.

Wang L, Morizono H, Lin J, Bell P, Jones D, McMenamin D, Yu H, Batshaw ML, Wilson JM.

Mol Genet Metab. 2012 Feb;105(2):203-11. doi: 10.1016/j.ymgme.2011.10.020. Epub 2011 Nov 7.


Management of hepatic encephalopathy.

Wright G, Chattree A, Jalan R.

Int J Hepatol. 2011;2011:841407. doi: 10.4061/2011/841407. Epub 2011 Sep 21.


Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Lichter-Konecki U, Diaz GA, Merritt JL 2nd, Feigenbaum A, Jomphe C, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Mokhtarani M, Scharschmidt B, Rhead W.

Mol Genet Metab. 2011 Aug;103(4):323-9. doi: 10.1016/j.ymgme.2011.04.013. Epub 2011 May 5.


Astrocyte glutamine synthetase: importance in hyperammonemic syndromes and potential target for therapy.

Brusilow SW, Koehler RC, Traystman RJ, Cooper AJ.

Neurotherapeutics. 2010 Oct;7(4):452-70. doi: 10.1016/j.nurt.2010.05.015. Review.


N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Ah Mew N, McCarter R, Daikhin Y, Nissim I, Yudkoff M, Tuchman M.

Pediatrics. 2010 Jul;126(1):e208-14. doi: 10.1542/peds.2010-0008. Epub 2010 Jun 21.

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