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Results: 20

1.

Dietary management of urea cycle disorders: European practice.

Adam S, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12.

PMID:
24113687
[PubMed - indexed for MEDLINE]
2.

Five novel mutations in ARG1 gene in Chinese patients of argininemia.

Wu TF, Liu YP, Li XY, Wang Q, Ding Y, Ma YY, Song JQ, Yang YL.

Pediatr Neurol. 2013 Aug;49(2):119-23. doi: 10.1016/j.pediatrneurol.2013.04.026.

PMID:
23859858
[PubMed - indexed for MEDLINE]
3.

Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1.

Hussein MH, Hashimoto T, Suzuki T, Daoud GA, Goto T, Nakajima Y, Kato T, Hibi M, Tomishige H, Hara F, Kato S, Kakita H, Kamei M, Ito T, Kato I, Sugioka A, Togari H.

Ann Transplant. 2013 Feb 17;18:63-8. doi: 10.12659/AOT.883820.

PMID:
23792503
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
23324524
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

Zhang Y, Landau YE, Miller DT, Marsden D, Berry GT, Kellogg MD.

Clin Biochem. 2012 Dec;45(18):1583-6. doi: 10.1016/j.clinbiochem.2012.08.015. Epub 2012 Aug 23.

PMID:
22971419
[PubMed - indexed for MEDLINE]
6.

Arginase deficiency with new phenotype and a novel mutation: contemporary summary.

Tsang JP, Poon WL, Luk HM, Fung CW, Ching CK, Mak CM, Lam CW, Siu TS, Tam S, Wong VC.

Pediatr Neurol. 2012 Oct;47(4):263-9. doi: 10.1016/j.pediatrneurol.2012.06.012.

PMID:
22964440
[PubMed - indexed for MEDLINE]
7.

Dietary management of urea cycle disorders: UK practice.

Adam S, Champion H, Daly A, Dawson S, Dixon M, Dunlop C, Eardley J, Evans S, Ferguson C, Jankowski C, Lowry S, MacDonald A, Maritz C, Micciche A, Robertson L, Stafford J, Terry A, Thom R, van Wyk K, Webster D, White FJ, Wildgoose J; British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Group.

J Hum Nutr Diet. 2012 Aug;25(4):398-404. doi: 10.1111/j.1365-277X.2012.01259.x. Epub 2012 May 18.

PMID:
22594780
[PubMed - indexed for MEDLINE]
8.

Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S503-6. doi: 10.1007/s10545-010-9263-7. Epub 2011 Jan 13.

PMID:
21229317
[PubMed - indexed for MEDLINE]
9.

A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations.

Segawa Y, Matsufuji M, Itokazu N, Utsunomiya H, Watanabe Y, Yoshino M, Takashima S.

Brain Dev. 2011 Jan;33(1):45-8. doi: 10.1016/j.braindev.2010.03.001. Epub 2010 Apr 24.

PMID:
20456883
[PubMed - indexed for MEDLINE]
10.

Creatine metabolism and the urea cycle.

Brosnan JT, Brosnan ME.

Mol Genet Metab. 2010;100 Suppl 1:S49-52. doi: 10.1016/j.ymgme.2010.02.020. Epub 2010 Mar 1.

PMID:
20304692
[PubMed - indexed for MEDLINE]
11.

Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Oldham MS, VanMeter JW, Shattuck KF, Cederbaum SD, Gropman AL.

Pediatr Neurol. 2010 Jan;42(1):49-52. doi: 10.1016/j.pediatrneurol.2009.07.017.

PMID:
20004862
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR.

Saudi Med J. 2009 Dec;30(12):1601-3.

PMID:
19936428
[PubMed - indexed for MEDLINE]
13.

Anesthesia in a patient with arginase deficiency: implications and management.

Kaul N, Khan RM, Sharma PK, Sumant A.

Paediatr Anaesth. 2008 Nov;18(11):1139-40. doi: 10.1111/j.1460-9592.2008.02660.x. No abstract available.

PMID:
18950360
[PubMed - indexed for MEDLINE]
14.

Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.

Deignan JL, Marescau B, Livesay JC, Iyer RK, De Deyn PP, Cederbaum SD, Grody WW.

Mol Genet Metab. 2008 Feb;93(2):172-8. Epub 2007 Nov 7.

PMID:
17997338
[PubMed - indexed for MEDLINE]
15.

Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

Saudubray JM, Rabier D.

J Nutr. 2007 Jun;137(6 Suppl 2):1669S-1672S. Review.

PMID:
17513445
[PubMed - indexed for MEDLINE]
Free Article
16.

Orotic acid excretion and arginine metabolism.

Brosnan ME, Brosnan JT.

J Nutr. 2007 Jun;137(6 Suppl 2):1656S-1661S. Review.

PMID:
17513443
[PubMed - indexed for MEDLINE]
Free Article
17.

A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.

Boles RG, Stone ML.

Mol Genet Metab. 2006 Dec;89(4):390-1. Epub 2006 Sep 11.

PMID:
16963300
[PubMed - indexed for MEDLINE]
18.

Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl.

Görker I, Tüzün U.

J Psychiatry Neurosci. 2005 Mar;30(2):133-5.

PMID:
15798789
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Hyperargininemia due to liver arginase deficiency.

Crombez EA, Cederbaum SD.

Mol Genet Metab. 2005 Mar;84(3):243-51. Epub 2004 Dec 19. Review.

PMID:
15694174
[PubMed - indexed for MEDLINE]
20.

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Korman SH, Gutman A, Stemmer E, Kay BS, Ben-Neriah Z, Zeigler M.

Prenat Diagn. 2004 Nov;24(11):857-60.

PMID:
15565656
[PubMed - indexed for MEDLINE]

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