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Year Number of Results
1969 1
1973 1
1976 3
1977 1
1978 1
1979 1
1981 1
1982 3
1983 1
1986 1
1987 2
1988 1
1989 1
1990 2
1991 2
1992 4
1993 3
1994 1
1995 6
1996 3
1997 2
1998 3
1999 3
2000 3
2001 3
2002 5
2003 1
2004 3
2005 6
2006 2
2007 1
2008 1
2009 1
2010 2
2014 2
2015 1
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2018 1
2019 3
2020 1
2022 3
2023 0

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86 results

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Page 1
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, and al …
Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of t …
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.
[Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency].
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25;49(5):539-547. doi: 10.3785/j.issn.1008-9292.2020.04.11. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33210478 Free PMC article. Review. Chinese.
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. ...Patients with neonatal onset usually have complete absence of OTC enzyme activity, which is mainly associated with male semi-zygotic mutations; and the di …
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. ...Patients with neo …
Messenger RNA therapy for rare genetic metabolic diseases.
Berraondo P, Martini PGV, Avila MA, Fontanellas A. Berraondo P, et al. Gut. 2019 Jul;68(7):1323-1330. doi: 10.1136/gutjnl-2019-318269. Epub 2019 Feb 22. Gut. 2019. PMID: 30796097 Review.
Here we summarise this new class of drugs and discuss the preclinical evidence supporting the potential of liver-mediated mRNA therapy for three rare genetic conditions: methylmalonic acidaemia, acute intermittent porphyria and ornithine transcarbamylase deficiency. …
Here we summarise this new class of drugs and discuss the preclinical evidence supporting the potential of liver-mediated mRNA therapy for t …
Valproate-induced hyperammonemic encephalopathy.
Segura-Bruna N, Rodriguez-Campello A, Puente V, Roquer J. Segura-Bruna N, et al. Acta Neurol Scand. 2006 Jul;114(1):1-7. doi: 10.1111/j.1600-0404.2006.00655.x. Acta Neurol Scand. 2006. PMID: 16774619 Review.
There are several studies that suggest that treatment with supplements of carnitine can lead to an early favorable clinical response due to the probable carnitine deficiency induced by a valproate (VPA) treatment. Development of the progressive confusional syndrome, associ …
There are several studies that suggest that treatment with supplements of carnitine can lead to an early favorable clinical response due to …
Marginal parental donors for pediatric living donor liver transplantation.
Kasahara M, Sakamoto S, Fukuda A, Uchida H, Yi NJ, Schlegel A, Muiesan P, Qiang X, Gao W, Zhu ZJ, Rodriguez-Davalos M, Rela M. Kasahara M, et al. Curr Opin Organ Transplant. 2022 Aug 1;27(4):346-350. doi: 10.1097/MOT.0000000000000990. Curr Opin Organ Transplant. 2022. PMID: 36354261 Review.
Indications for LT have evolved not only for cholestatic liver disease, but also metabolic liver diseases. Living donor selection, particularly for pediatric inherited disease, is essential to prevent morbidity, both in the donor and recipient. RECENT FINDINGS: Base …
Indications for LT have evolved not only for cholestatic liver disease, but also metabolic liver diseases. Living donor selection, pa …
Citrulline in health and disease. Review on human studies.
Papadia C, Osowska S, Cynober L, Forbes A. Papadia C, et al. Clin Nutr. 2018 Dec;37(6 Pt A):1823-1828. doi: 10.1016/j.clnu.2017.10.009. Epub 2017 Oct 16. Clin Nutr. 2018. PMID: 29107336 Review.
The amino acid L-citrulline (CIT) is safely used from the neonatal period onwards in those with urea cycle defects and carbamyl phosphate synthetase or ornithine transcarbamylase deficiencies, but several lines of enquiry indicate that it might have a much wider therapeuti …
The amino acid L-citrulline (CIT) is safely used from the neonatal period onwards in those with urea cycle defects and carbamyl phosphate sy …
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 responsible for …
Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Congenital OTC deficiencies in humans result in hyperammonemia and a spe …
Ammonia toxicity and its prevention in inherited defects of the urea cycle.
Walker V. Walker V. Diabetes Obes Metab. 2009 Sep;11(9):823-35. doi: 10.1111/j.1463-1326.2009.01054.x. Epub 2009 Jun 16. Diabetes Obes Metab. 2009. PMID: 19531057 Review.
Equally devastating episodes may occur in previously asymptomatic adults with mild defects, most often X-linked ornithine transcarbamylase (OTC) deficiency. Several mechanisms probably contribute to pathogenesis. ...Long-term correction is achieved by liver transpla …
Equally devastating episodes may occur in previously asymptomatic adults with mild defects, most often X-linked ornithine transcarbam …
[Ornithine transcarbamylase deficiency].
Matsuda I. Matsuda I. Nihon Rinsho. 2002 Apr;60 Suppl 4:775-8. Nihon Rinsho. 2002. PMID: 12013997 Review. Japanese. No abstract available.
86 results