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Items: 1 to 20 of 181

1.

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
2.

Ornithine transcarbamylase deficiency presenting as hepatitis.

Aronson PL, Mistry RD.

Pediatr Emerg Care. 2011 Jun;27(6):527-9. doi: 10.1097/PEC.0b013e31821d86c1.

PMID:
21642786
3.

Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.

Tummolo A, Favia V, Bellantuono R, Bellino V, Ranieri A, Morrone A, De Palo T, Papadia F.

Pediatr Emerg Care. 2013 May;29(5):656-8. doi: 10.1097/PEC.0b013e31828ec2b9.

PMID:
23640148
4.

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
5.

Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.

Choi DE, Lee KW, Shin YT, Na KR.

J Korean Med Sci. 2012 May;27(5):556-9. doi: 10.3346/jkms.2012.27.5.556. Epub 2012 Apr 25.

6.

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.

Zammarchi E, Donati MA, Filippi L, Resti M.

J Pediatr Gastroenterol Nutr. 1996 May;22(4):380-3.

PMID:
8732901
7.

[A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].

Shiro Y, Yabuki S.

Rinsho Shinkeigaku. 1992 Jul;32(7):752-4. Review. Japanese.

PMID:
1291170
8.

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations.

Legras A, Labarthe F, Maillot F, Garrigue MA, Kouatchet A, Ogier de Baulny H.

Crit Care Med. 2002 Jan;30(1):241-4.

PMID:
11902270
9.

Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.

Burlina AB, Ogier H, Korall H, Trefz FK.

Mol Genet Metab. 2001 Apr;72(4):351-5.

PMID:
11286510
11.

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.

12.

Ornithine transcarbamylase deficiency diagnosed in pregnancy.

Celik O, Buyuktas D, Aydin A, Acbay O.

Gynecol Endocrinol. 2011 Dec;27(12):1052-4. doi: 10.3109/09513590.2011.569787. Epub 2011 Jul 8.

PMID:
21736537
13.

Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.

Chiong MA, Carpenter K, Christodoulou J.

J Inherit Metab Dis. 2007 Jun;30(3):405. Epub 2007 Apr 3.

PMID:
17407001
14.

Ornithine transcarbamylase deficiency: a urea cycle defect.

Gordon N.

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

PMID:
12788037
15.

Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.

Tanaka A, Wada T, Maruyama M, Tanaka A, Takikawa H, Komatsu Y.

J Gastroenterol. 2005 Jan;40(1):106-7. No abstract available.

PMID:
15692798
16.
17.

Liver transplantation in urea cycle disorders.

Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y.

Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9.

PMID:
10603100
18.

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK.

Saudi Med J. 2015 Oct;36(10):1229-32. doi: 10.15537/smj.2015.10.12127.

19.

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.

Lipskind S, Loanzon S, Simi E, Ouyang DW.

J Perinatol. 2011 Oct;31(10):682-4. doi: 10.1038/jp.2011.23.

PMID:
21956151
20.

Prospective treatment of urea cycle disorders.

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

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

PMID:
1720458

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