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Items: 1 to 20 of 22

1.
The functional impact of 1,570 individual amino acid substitutions in human OTC
Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Gropman, Aimée M. Dudley
Am J Hum Genet. 2023 May 4; 110(5): 863–879. Published online 2023 May 4. doi: 10.1016/j.ajhg.2023.03.019
PMCID:
PMC10183466
ArticlePDF–4.6M
2.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity
Mónica Lopes‐Marques, Ana Rita Pacheco, Maria João Peixoto, Ana Rita Cardoso, Catarina Serrano, António Amorim, Maria João Prata, David N. Cooper, Luísa Azevedo
Hum Mutat. 2021 Aug; 42(8): 978–989. Published online 2021 Jun 3. doi: 10.1002/humu.24221
PMCID:
PMC8362079
ArticlePDF–2.3M
3.
Disease-causing Mutations in the Promoter and Enhancer of the Ornithine Transcarbamylase Gene
Yoon J. Jang, Abigail L. LaBella, Timothy P. Feeney, Nancy Braverman, Mendel Tuchman, Hiroki Morizono, Nicholas Ah Mew, Ljubica Caldovic
Hum Mutat. Author manuscript; available in PMC 2020 Jul 29.
Published in final edited form as: Hum Mutat. 2018 Apr; 39(4): 527–536. Published online 2018 Jan 16. doi: 10.1002/humu.23394
PMCID:
PMC7388160
ArticlePDF–1.5M
4.
A longitudinal study of urea cycle disorders
Mark L. Batshaw, Mendel Tuchman, Marshall Summar, Jennifer Seminara, the Members of the Urea Cycle Disorders Consortium
Mol Genet Metab. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Mol Genet Metab. 2014 Sep-Oct; 113(0): 127–130. Published online 2014 Aug 10. doi: 10.1016/j.ymgme.2014.08.001
PMCID:
PMC4178008
ArticlePDF–46K
5.
Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.
B. Levin, J. M. Abraham, V. G. Oberholzer, E. A. Burgess
Arch Dis Child. 1969 Apr; 44(234): 152–161. doi: 10.1136/adc.44.234.152
Correction in:
Arch Dis Child. 1969 Aug; 44(236): 542.
PMCID:
PMC2020046
SummaryPage BrowsePDF–1.6M
6.
Hyperammonaemia Due to Ornithine Transcarbamylase Deficiency
Ian J. Hopkins, John F. Connelly, A. G. Dawson, F. J. R. Hird, T. G. Maddison
Arch Dis Child. 1969 Apr; 44(234): 143–148. doi: 10.1136/adc.44.234.143
PMCID:
PMC2020044
SummaryPage BrowsePDF–1.1M
7.
Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.
J. T. Herrin, D. A. McCredie
Arch Dis Child. 1969 Apr; 44(234): 149–151. doi: 10.1136/adc.44.234.149
PMCID:
PMC2020041
SummaryPage BrowsePDF–391K
8.
Late onset ornithine carbamoyl transferase deficiency in males.
E Drogari, J V Leonard
Arch Dis Child. 1988 Nov; 63(11): 1363–1367. doi: 10.1136/adc.63.11.1363
PMCID:
PMC1779164
SummaryPage BrowsePDF–668K
9.
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
V E Shih, E L Berson, R Mandell, S Y Schmidt
Am J Hum Genet. 1978 Mar; 30(2): 174–179.
PMCID:
PMC1685558
SummaryPage BrowsePDF–560K
10.
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.
F C Ricciuti, T D Gelehrter, L E Rosenberg
Am J Hum Genet. 1976 Jul; 28(4): 332–338.
PMCID:
PMC1685051
SummaryPage BrowsePDF–1.4M
11.
Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.
J E Fox, A M Hack, W A Fenton, L E Rosenberg
Am J Hum Genet. 1986 Jun; 38(6): 841–847.
PMCID:
PMC1684839
SummaryPage BrowsePDF–890K
12.
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
R L Nussbaum, B A Boggs, A L Beaudet, S Doyle, J L Potter, W E O'Brien
Am J Hum Genet. 1986 Feb; 38(2): 149–158.
PMCID:
PMC1684765
SummaryPage BrowsePDF–1.3M
13.
Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.
W Holzgreve, M S Golbus
Am J Hum Genet. 1984 Mar; 36(2): 320–328.
PMCID:
PMC1684429
SummaryPage BrowsePDF–1.2M
14.
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
M Grompe, C T Caskey, R G Fenwick
Am J Hum Genet. 1991 Feb; 48(2): 212–222.
PMCID:
PMC1683033
SummaryPage BrowsePDF–2.0M
15.
Evidence of inherited urea cycle defect in a case of fatal valproate toxicity.
M Hjelm, L V de Silva, J W Seakins, V G Oberholzer, C J Rolles
Br Med J (Clin Res Ed) 1986 Jan 4; 292(6512): 23–24. doi: 10.1136/bmj.292.6512.23
PMCID:
PMC1338974
SummaryPage BrowsePDF–452K
16.
Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.
M E Pembrey, J M Old, J V Leonard, C H Rodeck, R Warren, K E Davies
J Med Genet. 1985 Dec; 22(6): 462–465. doi: 10.1136/jmg.22.6.462
PMCID:
PMC1049507
SummaryPage BrowsePDF–693K
17.
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
M Yudkoff, Y Daikhin, I Nissim, A Jawad, J Wilson, M Batshaw
J Clin Invest. 1996 Nov 1; 98(9): 2167–2173. doi: 10.1172/JCI119023
PMCID:
PMC507662
SummaryPDF–180K
18.
Patient selection may affect gene therapy success. Dominant negative effects observed for ornithine transcarbamylase in mouse and human hepatocytes.
M A Morsy, J Z Zhao, T T Ngo, A W Warman, W E O'Brien, F L Graham, C T Caskey
J Clin Invest. 1996 Feb 1; 97(3): 826–832. doi: 10.1172/JCI118482
PMCID:
PMC507121
SummaryPDF–287K
19.
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
A Maddalena, J E Spence, W E O'Brien, R L Nussbaum
J Clin Invest. 1988 Oct; 82(4): 1353–1358. doi: 10.1172/JCI113738
PMCID:
PMC442691
SummaryPage BrowsePDF–1.4M
20.
Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.
R DeMars, S L LeVan, B L Trend, L B Russell
Proc Natl Acad Sci U S A. 1976 May; 73(5): 1693–1697. doi: 10.1073/pnas.73.5.1693
PMCID:
PMC430366
SummaryPage BrowsePDF–1.0M

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