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Items: 1 to 20 of 92

1.

Urea cycle defects and hyperammonemia: effects on functional imaging.

Gropman AL, Prust M, Breeden A, Fricke S, VanMeter J.

Metab Brain Dis. 2013 Jun;28(2):269-75. doi: 10.1007/s11011-012-9348-0. Epub 2012 Nov 13.

2.

Brain imaging in urea cycle disorders.

Gropman A.

Mol Genet Metab. 2010;100 Suppl 1:S20-30. doi: 10.1016/j.ymgme.2010.01.017. Epub 2010 Feb 13. Review.

3.

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.

4.

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann GF, Häberle J.

Orphanet J Rare Dis. 2016 Aug 19;11(1):116. doi: 10.1186/s13023-016-0493-0.

5.

Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: an fMRI study.

Gropman AL, Shattuck K, Prust MJ, Seltzer RR, Breeden AL, Hailu A, Rigas A, Hussain R, VanMeter J.

Hum Brain Mapp. 2013 Apr;34(4):753-61. doi: 10.1002/hbm.21470. Epub 2011 Nov 23.

6.

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.

Lichter-Konecki U, Nadkarni V, Moudgil A, Cook N, Poeschl J, Meyer MT, Dimmock D, Baumgart S.

Mol Genet Metab. 2013 Aug;109(4):354-9. doi: 10.1016/j.ymgme.2013.05.014. Epub 2013 May 29.

PMID:
23791307
7.

Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Pacheco-Colón I, Fricke S, VanMeter J, Gropman AL.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):118-26. doi: 10.1016/j.ymgme.2014.05.005. Epub 2014 May 20. Review.

8.

Neurological implications of urea cycle disorders.

Gropman AL, Summar M, Leonard JV.

J Inherit Metab Dis. 2007 Nov;30(6):865-79. Epub 2007 Nov 23. Review.

9.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J.

J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19.

10.

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

McGuire PJ, Lee HS; members of the Urea Cycle Disorders Consoritum, Summar ML.

J Pediatr. 2013 Dec;163(6):1705-1710.e1. doi: 10.1016/j.jpeds.2013.08.029. Epub 2013 Sep 29.

11.

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Review.

12.

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.

Ah Mew N, Krivitzky L, McCarter R, Batshaw M, Tuchman M; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network.

J Pediatr. 2013 Feb;162(2):324-9.e1. doi: 10.1016/j.jpeds.2012.06.065. Epub 2012 Aug 15.

13.

Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency.

McGuire PJ, Tarasenko TN, Wang T, Levy E, Zerfas PM, Moran T, Lee HS, Bequette BJ, Diaz GA.

Dis Model Mech. 2014 Feb;7(2):205-13. doi: 10.1242/dmm.013003. Epub 2013 Nov 21.

14.

Diagnosis and treatment of urea cycle disorder in Japan.

Nakamura K, Kido J, Mitsubuchi H, Endo F.

Pediatr Int. 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439. Review.

PMID:
25039902
15.

Ammonia toxicity and its prevention in inherited defects of the urea cycle.

Walker V.

Diabetes Obes Metab. 2009 Sep;11(9):823-35. doi: 10.1111/j.1463-1326.2009.01054.x. Epub 2009 Jun 16. Review.

PMID:
19531057
16.

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report.

Okanishi T, Ito T, Nakajima Y, Ito K, Kakita H, Yamada Y, Kobayashi S, Ando N, Togari H.

Brain Dev. 2010 Aug;32(7):567-70. doi: 10.1016/j.braindev.2009.07.001. Epub 2009 Jul 28.

PMID:
19640662
17.

Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.

Wells DL, Thomas JB, Sacks GS, Zouhary LA.

Nutrition. 2014 Jul-Aug;30(7-8):943-7. doi: 10.1016/j.nut.2013.12.011. Epub 2013 Dec 16.

PMID:
24985015
18.

Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.

Lichter-Konecki U, Mangin JM, Gordish-Dressman H, Hoffman EP, Gallo V.

Glia. 2008 Mar;56(4):365-77. doi: 10.1002/glia.20624.

19.

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.

Hepatology. 2013 Jun;57(6):2171-9. doi: 10.1002/hep.26058. Epub 2013 Jan 3.

20.

Brain connectivity and visual attention.

Parks EL, Madden DJ.

Brain Connect. 2013;3(4):317-38. doi: 10.1089/brain.2012.0139. Epub 2013 Jun 8. Review.

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