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Items: 1 to 20 of 142

1.

Histopathological findings in livers of patients with urea cycle disorders.

Yaplito-Lee J, Chow CW, Boneh A.

Mol Genet Metab. 2013 Mar;108(3):161-5. doi: 10.1016/j.ymgme.2013.01.006. Epub 2013 Jan 23.

PMID:
23403242
2.

[Molecular basis of urea cycle disorders].

Matsuda I, Matsuura T, Hoshide R, Uchino T, Matsubasa T.

Nihon Rinsho. 1993 Feb;51(2):520-4. Review. Japanese.

PMID:
8464164
3.

Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance.

Badizadegan K, Perez-Atayde AR.

Hepatology. 1997 Aug;26(2):365-73.

PMID:
9252147
4.

Prospective treatment of urea cycle disorders.

Maestri NE, Hauser ER, Bartholomew D, Brusilow SW.

J Pediatr. 1991 Dec;119(6):923-8.

PMID:
1720458
5.

Hereditary urea cycle diseases in Finland.

Keskinen P, Siitonen A, Salo M.

Acta Paediatr. 2008 Oct;97(10):1412-9. doi: 10.1111/j.1651-2227.2008.00923.x. Epub 2008 Jul 9.

PMID:
18616627
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.

Orthotopic liver transplantation for urea cycle enzyme deficiency.

Todo S, Starzl TE, Tzakis A, Benkov KJ, Kalousek F, Saheki T, Tanikawa K, Fenton WA.

Hepatology. 1992 Mar;15(3):419-22.

8.
9.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
11.

[Molecular genetics of urea cycle diseases].

Ohtake A, Mori M.

Seikagaku. 1990 Sep;62(9):1170-7. Japanese. No abstract available.

PMID:
2258657
12.

Urea cycle enzymopathies.

Walser M.

Semin Liver Dis. 1982 Nov;2(4):329-39. Review. No abstract available.

PMID:
6763345
13.

Double deficiencies of urea cycle enzymes in human liver.

Raijman L.

Biochem Med. 1979 Apr;21(2):226-33. No abstract available.

PMID:
465019
14.

Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

Nagasaka H, Tsukahara H, Yorifuji T, Miida T, Murayama K, Tsuruoka T, Takatani T, Kanazawa M, Kobayashi K, Okano Y, Takayanagi M.

Metabolism. 2009 Mar;58(3):278-82. doi: 10.1016/j.metabol.2008.09.025.

PMID:
19217439
15.
16.

[Urea cycle disorders].

Tazawa Y.

Ryoikibetsu Shokogun Shirizu. 1995;(8):367-9. Review. Japanese. No abstract available.

PMID:
8581654
17.

Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.

Batshaw ML, Walser M, Brusilow SW.

Pediatr Res. 1980 Dec;14(12):1316-9.

PMID:
7208146
18.

[Prenatal diagnosis of enzymopathies of the urea cycle].

Chadefaux B, Rabier D, Kamoun P.

Ann Biol Clin (Paris). 1988;46(7):471-6. Review. French.

PMID:
3056128
19.

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M; Urea Cycle Disorder Consortium.

Hum Mutat. 2009 Jan;30(1):56-60. doi: 10.1002/humu.20813.

PMID:
18666241
20.

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.

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