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Items: 16

1.
GLUTAMINE AND HYPERAMMONEMIC CRISES IN PATIENTS WITH UREA CYCLE DISORDERS
B. Lee, G.A. Diaz, W. Rhead, U. Lichter-Konecki, A. Feigenbaum, S.A. Berry, C. Le Mons, J. Bartley, N. Longo, S.C. Nagamani, W. Berquist, R.C. Gallagher, C.O. Harding, S.E. McCandless, W. Smith, A. Schulze, M. Marino, R. Rowell, D.F. Coakley, M. Mokhtarani, B.F. Scharschmidt
Mol Genet Metab. Author manuscript; available in PMC 2016 Jun 21.
Published in final edited form as: Mol Genet Metab. 2016 Jan; 117(1): 27–32. Published online 2015 Nov 11. doi: 10.1016/j.ymgme.2015.11.005
PMCID:
PMC4915945
AbstractArticlePDF–1.6M
2.
Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate
Uta Lichter-Konecki, G.A. Diaz, J.L. Merritt, II, A. Feigenbaum, C. Jomphe, J.F. Marier, M. Beliveau, J. Mauney, K. Dickinson, A. Martinez, M. Mokhtarani, B. Scharschmidt, W. Rhead
Mol Genet Metab. Author manuscript; available in PMC 2016 May 25.
Published in final edited form as: Mol Genet Metab. 2011 Aug; 103(4): 323–329. Published online 2011 May 5. doi: 10.1016/j.ymgme.2011.04.013
PMCID:
PMC4880058
AbstractArticlePDF–997K
3.
Glycerol Phenylbutyrate Treatment in Children with Urea Cycle Disorders: Pooled Analysis of Short and Long-term Ammonia Control and Outcomes
Susan A. Berry, Uta Lichter-Konecki, George A. Diaz, Shawn E. McCandless, William Rhead, Wendy Smith, Cynthia LeMons, Sandesh C.S. Nagamani, Dion F. Coakley, Masoud Mokhtarani, Bruce F. Scharschmidt, Brendan Lee
Mol Genet Metab. Author manuscript; available in PMC 2015 Apr 2.
Published in final edited form as: Mol Genet Metab. 2014 May; 112(1): 17–24. Published online 2014 Feb 21. doi: 10.1016/j.ymgme.2014.02.007
PMCID:
PMC4382922
AbstractArticlePDF–1.4M
4.
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Elena Martín-Hernández, Luis Aldámiz-Echevarría, Esperanza Castejón-Ponce, Consuelo Pedrón-Giner, María Luz Couce, Juliana Serrano-Nieto, Guillem Pintos-Morell, Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, María Teresa García-Silva, Pilar Quijada-Fraile, Isidro Vitoria-Miñana, Jaime Dalmau, Rosa A Lama-More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García-Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz-Pons, Luis J Peña-Quintana, Inmaculada Vives-Piñera, Ana Moráis, Elena Balmaseda-Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez-Cerdá
Orphanet J Rare Dis. 2014; 9: 187. Published online 2014 Nov 30. doi: 10.1186/s13023-014-0187-4
PMCID:
PMC4258263
AbstractArticlePDF–413K
5.
A longitudinal study of urea cycle disorders
Mark L. Batshaw, Mendel Tuchman, Marshall Summar, Jennifer Seminara, the Members of the Urea Cycle Disorders Consortium
Mol Genet Metab. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Mol Genet Metab. 2014 Sep-Oct; 113(0): 127–130. Published online 2014 Aug 10. doi: 10.1016/j.ymgme.2014.08.001
PMCID:
PMC4178008
AbstractArticlePDF–46K
6.
Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane® (Sodium Phenylbutyrate) Taste-Masked Granules
Yves Kibleur, Dries Dobbelaere, Magalie Barth, Anaïs Brassier, Nathalie Guffon
Paediatr Drugs. 2014; 16(5): 407–415. Published online 2014 Jun 25. doi: 10.1007/s40272-014-0081-5
PMCID:
PMC4168023
AbstractArticlePDF–542K
7.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate
W Smith, GA Diaz, U Lichter-Konecki, SA Berry, CO Harding, SE McCandless, C LeMons, J Mauney, K Dickinson, DF Coakley, TL Moors, M Mokhtarani, M Mokhtarani, BF Scharschmidt, B Lee
J Pediatr. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: J Pediatr. 2013 Jun; 162(6): 1228–1234.e1. Published online 2013 Jan 13. doi: 10.1016/j.jpeds.2012.11.084
PMCID:
PMC4017326
AbstractArticlePDF–572K
8.
Pharmacology and Safety of Glycerol Phenylbutyrate in Healthy Adults and Adults with Cirrhosis
Brendan M. MCGuire, Igor A. Zupanets, Mark E. Lowe, Xunjun Xiao, Vasyliy A. Syplyviy, Jon Monteleone, Sharron Gargosky, Klara Dickinson, Antonia Martinez, Masoud Mokhtarani, Bruce F. Scharschmidt
Hepatology. Author manuscript; available in PMC 2013 Aug 5.
Published in final edited form as: Hepatology. 2010 Jun; 51(6): 2077–2085. doi: 10.1002/hep.23589
PMCID:
PMC3733097
AbstractArticlePDF–1.2M
9.
Argininosuccinate Lyase Deficiency
Sandesh C. Sreenath Nagamani, Ayelet Erez, Brendan Lee
Genet Med. Author manuscript; available in PMC 2013 Jul 12.
Published in final edited form as: Genet Med. 2012 May; 14(5): 501–507. Published online 2012 Jan 5. doi: 10.1038/gim.2011.1
PMCID:
PMC3709024
AbstractArticlePDF–955K
10.
Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications
Stephanie Lamb, Christina Yi Ling Aye, Elaine Murphy, Lucy Mackillop
BMJ Case Rep. 2013; 2013: bcr2012007416. Published online 2013 Jan 2. doi: 10.1136/bcr-2012-007416
PMCID:
PMC3604418
AbstractArticlePDF–205K
11.
Clinical and Experimental Applications of Sodium Phenylbutyrate
Tommaso Iannitti, Beniamino Palmieri
Drugs R D. 2011 Sep; 11(3): 227–249. Published online 2012 Nov 25. doi: 10.2165/11591280-000000000-00000
PMCID:
PMC3586072
AbstractArticlePDF–245K
12.
AMMONIA CONTROL AND NEUROCOGNITIVE OUTCOME AMONG UREA CYCLE DISORDER PATIENTS TREATED WITH GLYCEROL PHENYLBUTYRATE
George A. Diaz, Lauren S. Krivitzky, Masoud Mokhtarani, William Rhead, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata Gallagher, Uta Lichter-Konecki, Dennis Bartholomew, Cary O. Harding, Stephen Cederbaum, Shawn E. McCandless, Wendy Smith, Gerald Vockley, Stephen A. Bart, Mark S. Korson, David Kronn, Roberto Zori, J. Lawrence Merritt, II, Sandesh Sreenath-Nagamani, Joseph Mauney, Cynthia LeMons, Klara Dickinson, Tristen L. Moors, Dion F. Coakley, Bruce F. Scharschmidt, Brendan Lee
Hepatology. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Hepatology. 2013 Jun; 57(6): 2171–2179. Published online 2013 Jan 3. doi: 10.1002/hep.26058
PMCID:
PMC3557606
AbstractArticlePDF–876K
13.
Phase 2 Comparison of A Novel Ammonia Scavenging Agent With Sodium Phenylbutyrate In Patients With Urea Cycle Disorders: Safety, Pharmacokinetics And Ammonia Control
Brendan Lee, William Rhead, George A. Diaz, Bruce F. Scharschmidt, Asad Mian, Oleg Shchelochkov, JF Marier, Martin Beliveau, Joseph Mauney, Klara Dickinson, Antonia Martinez, Sharron Gargosky, Masoud Mokhtarani, Susan A. Berry
Mol Genet Metab. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Mol Genet Metab. 2010 Jul; 100(3): 221–228. Published online 2010 Mar 23. doi: 10.1016/j.ymgme.2010.03.014
PMCID:
PMC2905228
AbstractArticlePDF–935K
14.
Diagnosis, Symptoms, Frequency and Mortality of 260 Patients with Urea Cycle Disorders from a 21-Year, Multicentre Study of Acute Hyperammonaemic Episodes
Marshall L. Summar, Dries Dobbelaere, Saul Brusilow, Brendan Lee
Acta Paediatr. Author manuscript; available in PMC 2009 Apr 30.
Published in final edited form as: Acta Paediatr. 2008 Oct; 97(10): 1420–1425. Published online 2008 Jul 17. doi: 10.1111/j.1651-2227.2008.00952.x
PMCID:
PMC2675643
AbstractArticlePDF–125K
15.
Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States
Mendel Tuchman, Brendan Lee, Uta Lichter-Konecki, Marshall L. Summar, Marc Yudkoff, Stephen D. Cederbaum, Douglas S. Kerr, George A. Diaz, Margaretta R. Seashore, Hye-Seung Lee, Robert J. McCarter, Jeffrey P. Krischer, Mark L. Batshaw, Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network
Mol Genet Metab. Author manuscript; available in PMC 2009 Aug 1.
Published in final edited form as: Mol Genet Metab. 2008 Aug; 94(4): 397–402. Published online 2008 Jun 17. doi: 10.1016/j.ymgme.2008.05.004
PMCID:
PMC2640937
AbstractArticlePDF–555K
16.
Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus
M Bogdanovic, D Kidd, A Briddon, J Duncan, J Land
J Neurol Neurosurg Psychiatry. 2000 Dec; 69(6): 813–815. doi: 10.1136/jnnp.69.6.813
PMCID:
PMC1737159
SummaryPDF–141K

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