174 related articles for article (PubMed ID: 6429436)
1. Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.
Saheki T; Imamura Y; Inoue I; Miura S; Mori M; Ohtake A; Tatibana M; Katsumata N; Ohno T
J Inherit Metab Dis; 1984; 7(1):2-8. PubMed ID: 6429436
[TBL] [Abstract][Full Text] [Related]
2. Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.
Kodama H; Ohtake A; Mori M; Okabe I; Tatibana M; Kamoshita S
J Inherit Metab Dis; 1986; 9(2):175-85. PubMed ID: 3091923
[TBL] [Abstract][Full Text] [Related]
3. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Tuchman M; Tsai MY; Holzknecht RA; Brusilow SW
Pediatr Res; 1989 Jul; 26(1):77-82. PubMed ID: 2771513
[TBL] [Abstract][Full Text] [Related]
4. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
Hoshide R; Matsuura T; Sagara Y; Kubo T; Shimadzu M; Endo F; Matsuda I
Am J Med Genet; 1996 Aug; 64(3):459-64. PubMed ID: 8862622
[TBL] [Abstract][Full Text] [Related]
5. A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
Graf L; McIntyre P; Hoogenraad N; Brown G; Haan EA
J Inherit Metab Dis; 1984; 7(3):104-6. PubMed ID: 6438391
[TBL] [Abstract][Full Text] [Related]
6. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
Tsai MY; Holzknecht RA; Tuchman M
Hum Genet; 1993 May; 91(4):321-5. PubMed ID: 8099056
[TBL] [Abstract][Full Text] [Related]
7. Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.
Gray RG; Black JA; Lyons VH; Pollitt RJ
Pediatr Res; 1976 Nov; 10(11):918-23. PubMed ID: 980551
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 1511981
[TBL] [Abstract][Full Text] [Related]
9. Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.
Francois B; Briand P; Cathelineau L
Adv Exp Med Biol; 1982; 153():53-62. PubMed ID: 6819766
[No Abstract] [Full Text] [Related]
10. 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
Enzyme; 1990; 43(3):160-8. PubMed ID: 2095337
[TBL] [Abstract][Full Text] [Related]
11. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.
Zimmer KP; Bendiks M; Mori M; Kominami E; Robinson MB; Ye X; Wilson JM
Mol Med; 1999 Apr; 5(4):244-53. PubMed ID: 10448647
[TBL] [Abstract][Full Text] [Related]
12. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Feldmann D; Rozet JM; Pelet A; Hentzen D; Briand P; Hubert P; Largilliere C; Rabier D; Farriaux JP; Munnich A
J Med Genet; 1992 Jul; 29(7):471-5. PubMed ID: 1353535
[TBL] [Abstract][Full Text] [Related]
13. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Climent C; García-Pérez MA; Sanjurjo P; Ruiz-Sanz JI; Vilaseca MA; Pineda M; Campistol J; Rubio V
Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831
[TBL] [Abstract][Full Text] [Related]
14. Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
Wendel U; Wieland J; Bremer HJ; Bachmann C
Eur J Pediatr; 1989 Jan; 148(4):349-52. PubMed ID: 2707281
[TBL] [Abstract][Full Text] [Related]
15. Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
Tuchman M; Holzknecht RA; Gueron AB; Berry SA; Tsai MY
Pediatr Res; 1992 Nov; 32(5):600-4. PubMed ID: 1480464
[TBL] [Abstract][Full Text] [Related]
16. Ornithine transcarbamylase (OTC) in white blood cells.
Nagata N; Akaboshi I; Yamamoto J; Matsuda I; Ohtsuka H; Katsuki T
Pediatr Res; 1980 Dec; 14(12):1370-3. PubMed ID: 7208155
[TBL] [Abstract][Full Text] [Related]
17. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.
Bowling F; McGown I; McGill J; Cowley D; Tuchman M
Am J Med Genet; 1999 Aug; 85(5):452-4. PubMed ID: 10405441
[TBL] [Abstract][Full Text] [Related]
18. Gene therapy for ornithine transcarbamylase deficiency.
Kiwaki K; Matsuda I
Acta Paediatr Jpn; 1996 Apr; 38(2):189-92. PubMed ID: 8677801
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
Matsuda I; Matsuura T; Nishiyori A; Komaki S; Hoshide R; Matsumoto T; Funakoshi M; Kiwaki K; Endo F; Hata A; Shimadzu M; Yoshino M
J Med Genet; 1996 Aug; 33(8):645-8. PubMed ID: 8863155
[TBL] [Abstract][Full Text] [Related]
20. 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; 7(7):821-30. PubMed ID: 8860834
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
