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Items: 1 to 20 of 54

1.

Anesthetic experience of an adult male with citrullinemia type II: a case report.

Choi JJ, Kim HS, Lee KC, Shin Y, Jo YY.

BMC Anesthesiol. 2016 Oct 11;16(1):92.

2.

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.

3.

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives.

Shchelochkov OA, Dickinson K, Scharschmidt BF, Lee B, Marino M, Le Mons C.

Mol Genet Metab Rep. 2016 Jul 20;8:43-7. doi: 10.1016/j.ymgmr.2016.07.003.

4.

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J.

PLoS One. 2016 Apr 12;11(4):e0153358. doi: 10.1371/journal.pone.0153358.

5.

Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate.

Hook D, Diaz GA, Lee B, Bartley J, Longo N, Berquist W, Le Mons C, Rudolph-Angelich I, Porter M, Scharschmidt BF, Mokhtarani M.

Mol Genet Metab Rep. 2016 Jan 21;6:34-40. doi: 10.1016/j.ymgmr.2015.11.002.

6.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Wen W, Yin D, Huang F, Guo M, Tian T, Zhu H, Yang Y.

BMC Med Genet. 2016 Feb 3;17:9. doi: 10.1186/s12881-016-0273-7.

7.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V, Dubois S, Touati G, Barouki R, Lesage F, Dupic L, Bonnefont JP, Ottolenghi C, De Lonlay P.

Orphanet J Rare Dis. 2015 May 10;10:58. doi: 10.1186/s13023-015-0266-1.

8.
9.

Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.

Fike CD, Dikalova A, Kaplowitz MR, Cunningham G, Summar M, Aschner JL.

Am J Respir Cell Mol Biol. 2015 Aug;53(2):255-64. doi: 10.1165/rcmb.2014-0351OC.

10.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C.

Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4.

11.

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafé L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N.

Ann Clin Transl Neurol. 2014 Jul;1(7):462-70. doi: 10.1002/acn3.73.

12.

Genetic diseases that predispose to early liver cirrhosis.

Scorza M, Elce A, Zarrilli F, Liguori R, Amato F, Castaldo G.

Int J Hepatol. 2014;2014:713754. doi: 10.1155/2014/713754. Review.

13.

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Burrage LC, Jain M, Gandolfo L, Lee BH; Members of the Urea Cycle Disorders Consortium., Nagamani SC.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):131-5. doi: 10.1016/j.ymgme.2014.06.005.

14.

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkoff M, Tuchman M.

J Pediatr. 2014 Aug;165(2):401-403.e3. doi: 10.1016/j.jpeds.2014.04.012.

15.

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Burrage LC, Nagamani SC, Campeau PM, Lee BH.

Hum Mol Genet. 2014 Sep 15;23(R1):R1-8. doi: 10.1093/hmg/ddu123. Review.

16.

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.

17.

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.

18.

Single amino acid supplementation in aminoacidopathies: a systematic review.

van Vliet D, Derks TG, van Rijn M, de Groot MJ, MacDonald A, Heiner-Fokkema MR, van Spronsen FJ.

Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7. Review.

19.

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.

20.

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.

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