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Items: 1 to 20 of 162

1.

Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

Ohtake A, Takayanagi M, Yamamoto S, Kakinuma H, Nakajima H, Tatibana M, Mori M.

J Inherit Metab Dis. 1986;9(3):289-91. No abstract available.

PMID:
3099076
2.

Ornithine transcarbamylase deficiency in spf and spf-ash mice: genes, mRNAs and mRNA precursors.

Ohtake A, Takayanagi M, Yamamoto S, Nakajima H, Mori M.

Biochem Biophys Res Commun. 1987 Aug 14;146(3):1064-70.

PMID:
3039990
3.

Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.

Cavard C, Grimber G, Dubois N, Chasse JF, Bennoun M, Minet-Thuriaux M, Kamoun P, Briand P.

Nucleic Acids Res. 1988 Mar 25;16(5):2099-110.

5.

[Ornithine transcarbamylase deficiency].

Hata A.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):500-4. Japanese. No abstract available.

PMID:
2908395
6.

[DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].

Matsuura T, Matsuda I.

Tanpakushitsu Kakusan Koso. 1990 Dec;35(17):3113-9. Japanese. No abstract available.

PMID:
2287729
7.

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.

8.

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

Legius E, Baten E, Stul M, Marynen P, Cassiman JJ.

Clin Genet. 1990 Aug;38(2):155-9.

PMID:
2208768
9.

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Slomski R, Braulke I, Behrend C, Schröder E, Colombo JP, Reiss J.

Hum Genet. 1992 Aug;89(6):632-4.

PMID:
1511981
10.

Seven new mutations in the human ornithine transcarbamylase gene.

Tuchman M, Plante RJ, McCann MT, Qureshi AA.

Hum Mutat. 1994;4(1):57-60. No abstract available.

PMID:
7951259
11.
12.

The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency.

Batshaw ML, Yudkoff M, McLaughlin BA, Gorry E, Anegawa NJ, Smith IA, Hyman SL, Robinson MB.

Gene Ther. 1995 Dec;2(10):743-9.

PMID:
8750014
13.

Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency.

Ratnakumari L, Qureshi IA, Butterworth RF.

Metab Brain Dis. 1994 Mar;9(1):43-51.

PMID:
7914668
14.

Developmental study of hepatic glutamine synthetase in a mouse model of congenital hyperammonemia.

Skarpetas A, Mawal Y, Qureshi IA.

Biochem Mol Biol Int. 1997 Sep;43(1):133-9.

PMID:
9315291
15.

[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
16.

Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.

Qureshi IA, Letarte J, Ouellet R.

Adv Exp Med Biol. 1982;153:173-83. No abstract available.

PMID:
7164896
17.

No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.

Saheki T, Fukushige T, Kakinoki H, Kobayashi K.

Contrib Nephrol. 1997;121:109-16. No abstract available.

PMID:
9336705
18.

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.

Demmer LA, Kim JM, de Martinville B, Dowton SB.

Hum Mutat. 1996;7(3):279. No abstract available.

PMID:
8829665
19.

[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

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