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Year Number of Results
1969 4
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1978 12
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1982 25
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1992 25
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2003 25
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2005 26
2006 27
2007 36
2008 29
2009 38
2010 31
2011 31
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1,382 results

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Page 1
Ornithine transcarbamylase deficiency: A diagnostic odyssey.
Knerr I, Cassiman D. Knerr I, et al. J Inherit Metab Dis. 2022 Jul;45(4):661-662. doi: 10.1002/jimd.12530. Epub 2022 Jul 10. J Inherit Metab Dis. 2022. PMID: 35734906 Free PMC article. No abstract available.
[Neonate-onset ornithine transcarbamylase deficiency].
Gao RW, Ba Y, Zhang R, Cao Y, Yang L, Wu BB, Zhou WH, Zhou JG. Gao RW, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15;25(4):431-435. doi: 10.7499/j.issn.1008-8830.2302023. Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 37073851 Free PMC article. Chinese.
Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. ...
Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with orni …
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.
Torkzaban M, Haddad A, Baxter JK, Berghella V, Gahl WA, Al-Kouatly HB. Torkzaban M, et al. Am J Med Genet A. 2019 Oct;179(10):2091-2100. doi: 10.1002/ajmg.a.61329. Epub 2019 Aug 22. Am J Med Genet A. 2019. PMID: 31441224
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated. ...
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-thr …
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.
The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. ...The syndrome results from a deficiency of the mitochondrial enzyme ornithine …
The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in …
Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency.
Seasely AR, Sinkey RG, Dean SJ, Descartes M, Duncan VE. Seasely AR, et al. Pediatr Dev Pathol. 2022 May-Jun;25(3):278-284. doi: 10.1177/10935266211055286. Epub 2021 Dec 27. Pediatr Dev Pathol. 2022. PMID: 34958254
INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. ...Female phenotypes vary from asymptomatic to severe, and symptoms may be triggered by high metabolic states like childbirth. L …
INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-lin …
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.
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. ...In the 2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, …
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorde …
[Ornithine transcarbamylase deficiency].
Matsuura T. Matsuura T. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):395-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528802 Review. Japanese. No abstract available.
Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy.
Michalak A, Butterworth RF. Michalak A, et al. Metab Brain Dis. 1997 Sep;12(3):171-82. Metab Brain Dis. 1997. PMID: 9346466 Review.
Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Congenital OTC deficiencies in humans result in hyperammonemia and a spectrum of neurological symptoms including hypotonia, seizures and mental retardation. ...Possible pathophysiologic mechanisms responsi …
Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Congenital OTC deficiencies in humans result in hyperammonemia an …
1,382 results