Works matching DE "ORNITHINE carbamoyltransferase deficiency"
Results: 39
Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2016, v. 4, n. 1, p. 28, doi. 10.14587/paccj.2016.6
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- Article
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype.
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- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/1048717
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- Article
Mutations.
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- Human Genetics, 2003, v. 113, n. 4, p. 365, doi. 10.1007/s00439-003-0994-5
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- Article
Mutations.
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- Human Genetics, 2003, v. 113, n. 4, p. 367, doi. 10.1007/s00439-003-0995-4
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- Article
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
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- 2010
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- Publication type:
- Case Study
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Article
Sustained correction of OTC deficiency in spf<sup> ash</sup> mice using optimized self-complementary AAV2/8 vectors.
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- Gene Therapy, 2012, v. 19, n. 4, p. 404, doi. 10.1038/gt.2011.111
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- Article
Encefalopatía hiperamoniémica; valoración y manejo nutricional a propósito de un caso.
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- 2012
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- Case Study
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
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- Pediatrics International, 2005, v. 47, n. 3, p. 262, doi. 10.1111/j.1442-200x.2005.02063.x
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- Article
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
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- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153358
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- Article
Epilepsy.
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- 2008
- Publication type:
- Abstract
Brain images in ornithine transcarbamylase deficiency.
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- Neurology & Clinical Neuroscience, 2016, v. 4, n. 1, p. 36, doi. 10.1111/ncn3.12022
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- Article
Severe hyperammonaemia in a previously healthy teenager.
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- Annals of Clinical Biochemistry, 2000, v. 37, n. 5, p. 727, doi. 10.1258/0004563001899807
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- Article
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
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- Clinical Genetics, 2017, v. 92, n. 3, p. 318, doi. 10.1111/cge.13004
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- Article
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
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- Clinical Genetics, 2013, v. 84, n. 6, p. 552, doi. 10.1111/cge.12085
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- Article
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
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- Clinical Genetics, 2009, v. 76, n. 3, p. 263, doi. 10.1111/j.1399-0004.2009.01216.x
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- Article
Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness.
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- 2015
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- Publication type:
- Case Study
On-off vomiting and altered mentation in a 9-year-old: Avoiding mental block.
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- Contemporary Pediatrics, 2004, v. 21, n. 3, p. 16
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- Publication type:
- Article
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
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- International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 783, doi. 10.1007/s00414-015-1311-2
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- Article
Induction and Prevention of Severe Hyperammonemia in the spf<sup>ash</sup> Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery.
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- Molecular Therapy, 2011, v. 19, n. 5, p. 854, doi. 10.1038/mt.2011.32
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- Article
Analysis of Pyrimidine Synthesis De Novo Intermediates in Urine During Crisis of a Patient with Ornithine Transcarbamylase Deficiency.
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- Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1251, doi. 10.1080/15257770600894634
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- Article
Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration.
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- Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/453752
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- Article
Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency.
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- Case Reports in Critical Care, 2013, p. 1, doi. 10.1155/2013/493216
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- Publication type:
- Article
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
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- 2018
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- Publication type:
- Case Study
903. Ornithine Transacarbamylase Deficiency Correction with Low Dose of Helper-Dependent Adenoviral Vector
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- 2005
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- Publication type:
- Abstract
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.
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- 2018
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- Publication type:
- journal article
Anesthetic implications of ornithine transcarbamylase deficiency.
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- Pediatric Anesthesia, 2010, v. 20, n. 7, p. 666, doi. 10.1111/j.1460-9592.2010.03322.x
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- Article
Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency.
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- Pediatric Transplantation, 2012, v. 16, n. 6, p. E196, doi. 10.1111/j.1399-3046.2012.01716.x
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- Article
Ornithine transcarbamylase deficiency: Are carrier females suitable donors?
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- Pediatric Transplantation, 2012, v. 16, n. 6, p. 525, doi. 10.1111/j.1399-3046.2012.01733.x
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- Article
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.
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- 2017
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- Case Study
Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock.
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- 2016
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- Publication type:
- Case Study
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
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- 2007
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- Publication type:
- journal article
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
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- 2015
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- Publication type:
- Case Study
An 18-Month-Old Child with Ornithine Transcarbamylase Deficiency and a Rash.
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- 2011
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- Publication type:
- Other
Novel mutation in OTC gene causes neonatal death in twin brothers.
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- Journal of Perinatology, 2007, v. 27, n. 2, p. 123, doi. 10.1038/sj.jp.7211630
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- Article
In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.
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- Gene Therapy, 2009, v. 16, n. 6, p. 820, doi. 10.1038/gt.2009.38
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- Publication type:
- Article
Mitochondrial DNA 8993T>G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome: An Unexpected Association.
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- Journal of Child Neurology, 2012, v. 27, n. 8, p. 1059, doi. 10.1177/0883073811431015
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- Article
Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient With Ornithine Transcarbamylase Deficiency.
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- Journal of Child Neurology, 2009, v. 24, n. 7, p. 884, doi. 10.1177/0883073808331349
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- Article
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
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- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1517, doi. 10.1007/s11011-018-0259-6
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- Article