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Items: 1 to 20 of 106

1.

Suggested guidelines for the diagnosis and management of urea cycle disorders.

Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C.

Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Review.

2.

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.

3.

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
4.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.

Lee HH, Poon KH, Lai CK, Au KM, Siu TS, Lai JP, Mak CM, Yuen YP, Lam CW, Chan AY.

Hong Kong Med J. 2014 Feb;20(1):63-6. doi: 10.12809/hkmj133826.

5.

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF.

Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14.

PMID:
26597322
6.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

Erez A, Nagamani SC, Lee B.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Review.

7.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22. Erratum in: J Inherit Metab Dis. 2018 Jan 12;:.

PMID:
27106216
8.

The urea cycle disorders.

Helman G, Pacheco-Colón I, Gropman AL.

Semin Neurol. 2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771. Epub 2014 Sep 5.

PMID:
25192511
9.

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.

10.

Molecular diagnosis of urea cycle disorders: current global scenario.

Vaidyanathan K.

Indian J Biochem Biophys. 2013 Oct;50(5):357-62. Review.

PMID:
24772957
11.

Urea cycle disorders: clinical presentation outside the newborn period.

Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M.

Crit Care Clin. 2005 Oct;21(4 Suppl):S9-17. Review.

PMID:
16227115
12.

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S275-81. doi: 10.1007/s10545-010-9148-9. Epub 2010 Jun 24.

PMID:
20574716
13.

The incidence of urea cycle disorders.

Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18.

14.

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
15.

[Clinical and laboratory screening studies on urea cycle defects].

Yang YL, Sun F, Qian N, Song JQ, Wang S, Chang XZ, Yang HY, Wang SQ, Li L, Zhang YH, Bao XH, Li M, Qi Y, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2005 May;43(5):331-4. Chinese.

PMID:
15924745
16.

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.

17.

[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

Guan HZ, Ding Y, Li DX, Dong H, Song JQ, Jin Y, Zhu ZJ, Sun LY, Yang YL.

Zhonghua Er Ke Za Zhi. 2017 Jun 2;55(6):428-433. doi: 10.3760/cma.j.issn.0578-1310.2017.06.007. Chinese.

PMID:
28592010
18.

Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.

Ibarra-González I, Fernández-Lainez C, Vela-Amieva M.

Clin Biochem. 2010 Mar;43(4-5):461-6. doi: 10.1016/j.clinbiochem.2009.12.004. Epub 2009 Dec 16.

PMID:
20025860
19.

Argininosuccinate lyase deficiency.

Nagamani SC, Erez A, Lee B.

Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Review.

20.

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A; Newborn Screening Laboratory Staff.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):46-52. doi: 10.1016/j.ymgme.2014.07.003. Epub 2014 Jul 11.

PMID:
25047749

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