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Results: 1 to 20 of 105

1.

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.

Samuel N, Politansky AK, Hoffman R, Itzkovich S, Mandel H.

Isr Med Assoc J. 2013 Dec;15(12):777-9. No abstract available.

PMID:
24449986
[PubMed - indexed for MEDLINE]
Free Article
2.

Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.

Mhanni AA, Prasad C, Rockman-Greenberg C.

Pediatr Emerg Care. 2011 Sep;27(9):850-3. doi: 10.1097/PEC.0b013e31822c25c9.

PMID:
21926883
[PubMed - indexed for MEDLINE]
3.

Ornithine transcarbamylase deficiency and pancreatitis.

Anadiotis G, Ierardi-Curto L, Kaplan PB, Berry GT.

J Pediatr. 2001 Jan;138(1):123-4.

PMID:
11148526
[PubMed - indexed for MEDLINE]
4.

A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.

Mukhtar A, Dabbous H, El Sayed R, Aboulfetouh F, Bahaa M, Abdelaal A, Fathy M, El-Meteini M.

Am J Transplant. 2013 Apr;13(4):1084-7. doi: 10.1111/ajt.12146. Epub 2013 Mar 6.

PMID:
23551631
[PubMed - indexed for MEDLINE]
Free Article
5.

High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure.

Teufel U, Weitz J, Flechtenmacher C, Prietsch V, Schmidt J, Hoffmann GF, K├Âlker S, Engelmann G.

Pediatr Transplant. 2011 Sep;15(6):E110-5. doi: 10.1111/j.1399-3046.2009.01171.x. Epub 2009 Apr 26.

PMID:
21884343
[PubMed - indexed for MEDLINE]
6.

Ornithine transcarbamoylase deficiency presenting with acute liver failure.

Mustafa A, Clarke JT.

J Inherit Metab Dis. 2006 Aug;29(4):586. Epub 2006 Jun 26.

PMID:
16802108
[PubMed - indexed for MEDLINE]
7.

An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.

Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B.

Pediatrics. 2002 Jan;109(1):150-2.

PMID:
11773558
[PubMed - indexed for MEDLINE]
8.

[Ornithine transcarbamylase deficiency].

Matsuda I.

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

PMID:
12013997
[PubMed - indexed for MEDLINE]
9.

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML.

Mol Genet Metab. 2012 Feb;105(2):263-5. doi: 10.1016/j.ymgme.2011.10.016. Epub 2011 Nov 7.

PMID:
22129577
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

RC--a case of ornithine transcarbamylase (OTC) deficiency. The most commonly genetically acquired urea cycle defect.

Morra DR, Nadkarni VM, Bartoshesky LE, Finkelstein MS.

Del Med J. 2000 Aug;72(8):349-54. No abstract available.

PMID:
10984978
[PubMed - indexed for MEDLINE]
11.

A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency.

Lee JY, Chang SE, Suh CW, Choi JH, Sung KJ, Moon KC, Koh JK.

J Am Acad Dermatol. 2002 Jun;46(6):965-7. No abstract available.

PMID:
12063505
[PubMed - indexed for MEDLINE]
12.

Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.

Nagasaka H, Yorifuji T, Murayama K, Kubota M, Kurokawa K, Murakami T, Kanazawa M, Takatani T, Ogawa A, Ogawa E, Yamamoto S, Adachi M, Kobayashi K, Takayanagi M.

Eur J Pediatr. 2006 Sep;165(9):618-24. Epub 2006 May 16.

PMID:
16703326
[PubMed - indexed for MEDLINE]
13.

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.

Azevedo L, Vilarinho L, Teles EL, Amorim A.

Mol Genet Metab. 2002 May;76(1):68-70.

PMID:
12175783
[PubMed - indexed for MEDLINE]
14.

[Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].

Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):195-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.016. Chinese.

PMID:
23568734
[PubMed - indexed for MEDLINE]
15.

[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].

Sun WH, Yang Y, Zhang YP, Li XT, Zhang M, Cao Y, Wang Y.

Zhonghua Er Ke Za Zhi. 2011 May;49(5):356-60. Chinese.

PMID:
21624287
[PubMed - indexed for MEDLINE]
16.

Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.

Marini JC, Erez A, Castillo L, Lee B.

Am J Physiol Endocrinol Metab. 2007 Dec;293(6):E1764-71. Epub 2007 Oct 9.

PMID:
17925451
[PubMed - indexed for MEDLINE]
Free Article
17.
18.

Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.

Mak CM, Siu TS, Lam CW, Chan GC, Poon GW, Wong KY, Low LC, Tang NL, Li SK, Lau KY, Kwong NS, Tam S.

J Inherit Metab Dis. 2007 Nov;30(6):981. Epub 2007 Oct 5.

PMID:
17922216
[PubMed - indexed for MEDLINE]
19.

Under recognition of late onset ornithine transcarbamylase deficiency.

Schultz RE, Salo MK.

Arch Dis Child. 2000 May;82(5):390-1.

PMID:
10799432
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Living donor liver transplantation for ornithine transcarbamylase deficiency.

Wakiya T, Sanada Y, Mizuta K, Umehara M, Urahasi T, Egami S, Hishikawa S, Fujiwara T, Sakuma Y, Hyodo M, Murayama K, Hakamada K, Yasuda Y, Kawarasaki H.

Pediatr Transplant. 2011 Jun;15(4):390-5. doi: 10.1111/j.1399-3046.2011.01494.x. Epub 2011 Mar 9.

PMID:
21585627
[PubMed - indexed for MEDLINE]

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