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Items: 1 to 20 of 108

1.

Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Vella S, Steiner F, Schlumbom V, Zurbrügg R, Wiesmann UN, Schaffner T, Wermuth B.

J Inherit Metab Dis. 1997 Aug;20(4):517-24.

PMID:
9266387
2.

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
4.
5.

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
6.

A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.

Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L.

Hepatology. 1996 Dec;24(6):1413-5.

PMID:
8938172
7.

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
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.

Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene.

Zimmer KP, Matsuda I, Matsuura T, Mori M, Colombo JP, Fahimi HD, Koch HG, Ullrich K, Harms E.

Eur J Cell Biol. 1995 May;67(1):73-83.

PMID:
7641731
12.

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
13.

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, Akaboshi I, Matsuda I.

Hum Genet. 1991 May;87(1):28-32.

PMID:
2037279
14.
15.

[Variability of enzyme activity and urinary orotic acid in ornithine transcarbamylase deficient spf/+ heterozygotic mice].

Qureshi IA, Letarte J, Lebel S, Ouellet R.

Diabete Metab. 1986 Oct;12(5):250-5. French.

PMID:
3803679
16.

Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

Morizono H, Tuchman M, Rajagopal BS, McCann MT, Listrom CD, Yuan X, Venugopal D, Barany G, Allewell NM.

Biochem J. 1997 Mar 1;322 ( Pt 2):625-31.

17.

[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].

Beaudry MA, Letarte J, Collu R, Leboeuf G, Ducharme JR, Melancon SB, Dallairf L.

Diabete Metab. 1975 Mar;1:29-37. French.

PMID:
1234064
18.

Ornithine transcarbamylase variant in a male patient.

Stöckler S, Grossschädl F, Bachmann C, Roscher A.

J Inherit Metab Dis. 1987;10(3):272. No abstract available.

PMID:
3123789
20.

Carrier detection in ornithine transcarbamylase deficiency.

Haan EA, Danks DM, Grimes A, Hoogenraad NJ.

J Inherit Metab Dis. 1982;5(1):37-40.

PMID:
6820412
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