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Items: 1 to 20 of 107

1.

Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW.

N Engl J Med. 1990 Jun 7;322(23):1652-5. No abstract available.

2.

Precarious balance of nitrogen metabolism in women with a urea-cycle defect.

Horwich AL, Fenton WA.

N Engl J Med. 1990 Jun 7;322(23):1668-70. No abstract available.

PMID:
2342527
3.

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
4.

Ornithine transcarbamylase deficiency in pregnancy.

Cordero DR, Baker J, Dorinzi D, Toffle R.

J Inherit Metab Dis. 2005;28(2):237-40. Erratum in: J Inherit Metab Dis. 2005;28(5):811.

PMID:
15877212
5.

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

Iyer H, Sen M, Prasad C, Rupar CA, Lindsay RM.

Hemodial Int. 2012 Jan;16(1):95-100. doi: 10.1111/j.1542-4758.2011.00591.x.

PMID:
22099885
6.

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.

Sunshine P, Lindenbaum JE, Levy HL, Freeman JM.

Pediatrics. 1972 Jul;50(1):100-11. No abstract available.

PMID:
5038084
7.

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Ségues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A.

Hum Mutat. 1996;8(4):373-4. No abstract available.

PMID:
8956045
8.

[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].

Stoll C, Bieth R, Dreyfus J, Flori E, Lutz P, Levy JM.

Arch Fr Pediatr. 1978 May;35(5):512-8. French.

PMID:
678030
9.
10.

Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.

Matsuda I, Arashima S, Nambu H, Takekoshi Y, Anakura M.

Pediatrics. 1971 Oct;48(4):595-600. No abstract available.

PMID:
5114747
11.

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
12.
13.

Ornithine transcarbamylase deficiency in the newborn infant.

Kang ES, Snodgrass PJ, Gerald PS.

J Pediatr. 1973 Apr;82(4):642-9. No abstract available.

PMID:
4698340
14.
15.
16.

[Fulminant coma: think hyperammonemia and urea cycle disorders].

Augris C, Jouvet P, Benabdelmalek F, Vauquelin P, Caramella JP.

Ann Fr Anesth Reanim. 2002 Dec;21(10):820-3. French.

PMID:
12534125
17.

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

Nishiyori A, Yoshino M, Tananari Y, Matsuura T, Hoshide R, Mastuda I, Mori M, Kato H.

Hum Mutat. 1998;Suppl 1:S131-3. No abstract available.

PMID:
9452065
18.
19.

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

Calvas P, Ségues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A.

Hum Mutat. 1998;Suppl 1:S81-4. No abstract available.

PMID:
9452049
20.

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A.

Ann Biol Clin (Paris). 1988;46(7):455-9. French.

PMID:
2903704

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