Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 1
1982 1
1984 1
1985 1
1986 1
1987 1
1989 2
1991 6
1992 1
1994 4
1995 6
1996 6
1997 4
1998 5
1999 7
2000 10
2001 5
2002 4
2003 5
2004 5
2005 6
2006 5
2007 5
2008 5
2009 5
2010 6
2011 3
2012 1
2013 2
2014 6
2015 8
2016 8
2017 5
2018 6
2019 2
2020 5
2021 5
2022 3
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

158 results

Results by year

Filters applied: . Clear all
Page 1
Ornithine carbamoyltransferase deficiency.
Wraith JE. Wraith JE. Arch Dis Child. 2001 Jan;84(1):84-88. doi: 10.1136/adc.84.1.84. Arch Dis Child. 2001. PMID: 11124797 Free PMC article. Review. No abstract available.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the prediction of the disease course at an early disease stage is very important to individually adjust therapies such as …
Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individu …
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Peng MZ, Li XZ, Mei HF, Sheng HY, Yin X, Jiang MY, Cai YN, Su L, Lin YT, Shao YX, Liu L. Peng MZ, et al. Clin Biochem. 2020 Oct;84:63-72. doi: 10.1016/j.clinbiochem.2020.06.011. Epub 2020 Jun 19. Clin Biochem. 2020. PMID: 32569589
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is pleomorphic congenital hyperammonemia, in which the prognosis of the patient is determined both by genotype and environmental factors. This study investigated the clinical and biochemical characteristics of OTCD p …
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is pleomorphic congenital hyperammonemia, in which the prognosis of the pati …
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Caldovic L, et al. J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. J Genet Genomics. 2015. PMID: 26059767 Free PMC article. Review.
This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype …
This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about nat …
Ornithine carbamoyl transferase deficiency: findings, models and problems.
Bachmann C. Bachmann C. J Inherit Metab Dis. 1992;15(4):578-91. doi: 10.1007/BF01799616. J Inherit Metab Dis. 1992. PMID: 1528018 Review.
Animal research on the mechanisms leading to irreversible damage in hyperammonaemia should be encouraged in order to define reliable predictive criteria for clinical decisions....
Animal research on the mechanisms leading to irreversible damage in hyperammonaemia should be encouraged in order to define reliable pred …
Ornithine transcarbamylase deficiency: a urea cycle defect.
Gordon N. Gordon N. Eur J Paediatr Neurol. 2003;7(3):115-21. doi: 10.1016/s1090-3798(03)00040-0. Eur J Paediatr Neurol. 2003. PMID: 12788037 Review.
In the case of prenatal diagnosis this is possible on a chorionic villus sample. The prognosis of ornithine transcarbamylase deficiency is better for those with an onset after infancy, but morbidity from brain damage does not appear to be linked to the number of episodes o …
In the case of prenatal diagnosis this is possible on a chorionic villus sample. The prognosis of ornithine transcarbamylase deficien …
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J. Laemmle A, et al. PLoS One. 2016 Apr 12;11(4):e0153358. doi: 10.1371/journal.pone.0153358. eCollection 2016. PLoS One. 2016. PMID: 27070778 Free PMC article.
RESULTS: More than 50% of Swiss patients with OTCD had liver involvement with ALF at least once in the course of disease. Elevated levels of ammonia often correlated with (laboratory) coagulopathy as reflected by increased values for international normalized ratio (INR) an …
RESULTS: More than 50% of Swiss patients with OTCD had liver involvement with ALF at least once in the course of disease. Elevated le …
Jesse's intent.
Gelsinger P. Gelsinger P. Bull Med Ethics. 2002 Jun-Jul;(179):13-20. Bull Med Ethics. 2002. PMID: 12739533 No abstract available.
Hyperammonemic encephalopathy.
Brusilow SW. Brusilow SW. Medicine (Baltimore). 2002 May;81(3):240-9. doi: 10.1097/00005792-200205000-00007. Medicine (Baltimore). 2002. PMID: 11997720 Free article. Review. No abstract available.
Prenatal treatment of ornithine transcarbamylase deficiency.
Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM. Wilnai Y, et al. Mol Genet Metab. 2018 Mar;123(3):297-300. doi: 10.1016/j.ymgme.2018.01.004. Epub 2018 Jan 16. Mol Genet Metab. 2018. PMID: 29396029
PURPOSE OF STUDY: Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is st …
PURPOSE OF STUDY: Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, …
158 results