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Items: 1 to 20 of 112

1.
2.

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
3.

[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
4.

Ornithine transcarbamylase deficiency in male adolescence and adulthood.

Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H, et al.

Enzyme. 1990;43(3):160-8.

PMID:
2095337
5.

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
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.

Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors.

Ye X, Robinson MB, Batshaw ML, Furth EE, Smith I, Wilson JM.

J Biol Chem. 1996 Feb 16;271(7):3639-46.

8.

[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
9.

Study of enzyme defect in a case of ornithine transcarbamylase deficiency.

Qureshi IA, Letarte J, Quellet R.

Diabete Metab. 1978 Dec;4(4):239-41.

PMID:
729890
10.

Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter.

Kiwaki K, Kanegae Y, Saito I, Komaki S, Nakamura K, Miyazaki JI, Endo F, Matsuda I.

Hum Gene Ther. 1996 May 1;7(7):821-30.

PMID:
8860834
11.

[Detection of female carriers of ornithine-carbamyl-transferase deficiency by measurement of orotic acid in the urine].

Dhondt JL, Farriaux JP.

Lille Med. 1975 Oct;20(8):727-30. French. No abstract available.

PMID:
1219292
12.

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
13.

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.

Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M.

Am J Med Genet. 1996 Dec 18;66(3):311-5. Erratum in: Am J Med Genet 1997 Jul 11;71(1):125.

PMID:
8985493
14.

The role of hepatic ornithine transcarbamylase deficiency in the orotic aciduria of pregnant mice.

Qureshi IA, Letarte J, Tuchweber B, Yousef I, Qureshi SR.

Eur J Obstet Gynecol Reprod Biol. 1986 Jul;22(3):183-91.

PMID:
3732588
15.

Ornithine transcarbamylase deficiency in a boy with normal development.

Yudkoff M, Yang W, Snodgrass PJ, Segal S.

J Pediatr. 1980 Mar;96(3 Pt 1):441-3. No abstract available.

PMID:
7188954
16.

Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.

Morsy MA, Zhao JZ, Ngo TT, Warman AW, O'Brien WE, Graham FL, Caskey CT.

J Clin Invest. 1996 Feb 1;97(3):826-32.

17.

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.

18.

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
19.

Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency.

Landrieu P, Fran├žois B, Lyon G, Van Hoof F.

Pediatr Res. 1982 Dec;16(12):977-81.

PMID:
7155674
20.

Sparse-fur mutation: a model for some human ornithine transcarbamylase deficiencies.

Briand P, Cathelineau L.

Adv Exp Med Biol. 1982;153:185-94. No abstract available.

PMID:
6819764
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