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Results: 1 to 20 of 75

1.

Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.

Hui J, Tang NL, Li CK, Law LK, To KF, Yau P, Fung SL, Chong JS, Tsung L, Chiang G, Fung E, Cheung KL, Yeung WL, Fok TF.

Pathology. 2014 Aug;46(5):375-82. doi: 10.1097/PAT.0000000000000140. Review.

PMID:
24992243
2.
3.

Management of ornithine transcarbamylase deficiency in pregnancy.

Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I.

Am J Perinatol. 2010 Nov;27(10):775-84. doi: 10.1055/s-0030-1254240. Epub 2010 May 10. Review.

PMID:
20458665
4.

Ammonia toxicity and its prevention in inherited defects of the urea cycle.

Walker V.

Diabetes Obes Metab. 2009 Sep;11(9):823-35. doi: 10.1111/j.1463-1326.2009.01054.x. Epub 2009 Jun 16. Review.

PMID:
19531057
5.

Contrasting features of urea cycle disorders in human patients and knockout mouse models.

Deignan JL, Cederbaum SD, Grody WW.

Mol Genet Metab. 2008 Jan;93(1):7-14. Epub 2007 Oct 22. Review.

6.

[Hyperammonemia type II as an example of urea cycle disorder].

Hawrot-Kawecka AM, Kawecki GP, Duława J.

Wiad Lek. 2006;59(7-8):512-5. Review. Polish.

PMID:
17209350
7.

Valproate-induced hyperammonemic encephalopathy.

Segura-Bruna N, Rodriguez-Campello A, Puente V, Roquer J.

Acta Neurol Scand. 2006 Jul;114(1):1-7. Review.

PMID:
16774619
8.

Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University.

Morioka D, Kasahara M, Takada Y, Shirouzu Y, Taira K, Sakamoto S, Uryuhara K, Egawa H, Shimada H, Tanaka K.

Liver Transpl. 2005 Nov;11(11):1332-42. Review.

9.

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
10.

Genetic counseling issues in urea cycle disorders.

Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML.

Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. Review.

PMID:
16227114
11.

Nutritional management of urea cycle disorders.

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

Crit Care Clin. 2005 Oct;21(4 Suppl):S27-35. Review.

PMID:
16227113
12.

Considerations in the difficult-to-manage urea cycle disorder patient.

Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML.

Crit Care Clin. 2005 Oct;21(4 Suppl):S19-25. Review.

PMID:
16227112
13.

Unmasked adult-onset urea cycle disorders in the critical care setting.

Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW.

Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. Review.

PMID:
16227111
14.

Adult liver transplantation for metabolic liver disease.

Goss JA, Stribling R, Martin P.

Clin Liver Dis. 1998 Feb;2(1):187-210. Review.

PMID:
15560053
15.

[Acute promyelocytic leukemia after living donor partial orthotopic liver transplantation].

Sato T, Nakajima M, Iguchi A, Kobayashi R, Kobayashi K.

Rinsho Ketsueki. 2004 Mar;45(3):233-7. Review. Japanese.

PMID:
15103938
16.

Problems in the management of urea cycle disorders.

Wilcken B.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S86-91. Review.

PMID:
15050980
17.

Cognitive outcome in urea cycle disorders.

Gropman AL, Batshaw ML.

Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. Review.

PMID:
15050975
18.

Ornithine transcarbamylase deficiency: a urea cycle defect.

Gordon N.

Eur J Paediatr Neurol. 2003;7(3):115-21. Review.

PMID:
12788037
19.

[Inborn errors of amino acid metabolism and convulsions].

Endo F.

Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):157-61. Review. Japanese. No abstract available.

PMID:
12483852
20.

[Ornithine transcarbamylase deficiency].

Matsuda I.

Nihon Rinsho. 2002 Apr;60 Suppl 4:775-8. Review. Japanese. No abstract available.

PMID:
12013997
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