Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 552, doi. 10.1111/cge.12085
- By:
- Publication type:
- Article
Works matching Ornithine carbamoyltransferase deficiency
Results: 63
1
2
Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
- Published in:
- International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 783, doi. 10.1007/s00414-015-1311-2
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- Publication type:
- Article
3
Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2016, v. 4, n. 1, p. 28, doi. 10.14587/paccj.2016.6
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- Publication type:
- Article
4
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06696-5
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- Publication type:
- Article
5
Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome.
- Published in:
- American Journal of Case Reports, 2019, v. 20, p. 1085, doi. 10.12659/AJCR.914416
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- Publication type:
- Article
6
Mutations.
- Published in:
- Human Genetics, 2003, v. 113, n. 4, p. 365, doi. 10.1007/s00439-003-0994-5
- Publication type:
- Article
7
Mutations.
- Published in:
- Human Genetics, 2003, v. 113, n. 4, p. 367, doi. 10.1007/s00439-003-0995-4
- Publication type:
- Article
8
Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01740-8
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- Publication type:
- Article
9
Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature.
- Published in:
- Nutrición Hospitalaria, 2024, v. 41, n. 2, p. 489, doi. 10.20960/nh.04867
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- Publication type:
- Article
10
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. E1294, doi. 10.1002/humu.21215
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- Publication type:
- Article
11
Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration.
- Published in:
- Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/453752
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- Publication type:
- Article
12
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
- Published in:
- 2007
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- Publication type:
- journal article
13
Analysis of Pyrimidine Synthesis De Novo Intermediates in Urine During Crisis of a Patient with Ornithine Transcarbamylase Deficiency.
- Published in:
- Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1251, doi. 10.1080/15257770600894634
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- Publication type:
- Article
14
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
- Published in:
- 2010
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- Publication type:
- Case Study
15
Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 6, p. E196, doi. 10.1111/j.1399-3046.2012.01716.x
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- Publication type:
- Article
16
Ornithine transcarbamylase deficiency: Are carrier females suitable donors?
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 6, p. 525, doi. 10.1111/j.1399-3046.2012.01733.x
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- Publication type:
- Article
17
An 18-Month-Old Child with Ornithine Transcarbamylase Deficiency and a Rash.
- Published in:
- 2011
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- Publication type:
- Other
18
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Publication type:
- Article
19
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.
- Published in:
- 2018
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- Publication type:
- journal article
20
Severe hyperammonaemia in a previously healthy teenager.
- Published in:
- Annals of Clinical Biochemistry, 2000, v. 37, n. 5, p. 727, doi. 10.1258/0004563001899807
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- Publication type:
- Article
21
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 318, doi. 10.1111/cge.13004
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- Publication type:
- Article
22
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
- Published in:
- Clinical Genetics, 2009, v. 76, n. 3, p. 263, doi. 10.1111/j.1399-0004.2009.01216.x
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- Publication type:
- Article
23
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2679, doi. 10.1002/ajmg.a.36671
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- Publication type:
- Article
24
Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
25
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 691, doi. 10.1023/A:1012995701589
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- Publication type:
- Article
26
SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 513, doi. 10.1023/A:1010593916546
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- Publication type:
- Article
27
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 5, doi. 10.1023/A:1005682017337
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- Publication type:
- Article
28
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 843, doi. 10.1023/A:1026768904395
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- Publication type:
- Article
29
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 669, doi. 10.1023/A:1005614409241
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- Publication type:
- Article
30
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 662, doi. 10.1023/A:1005610325170
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- Publication type:
- Article
31
Ornithine carbamoyltransferase deficiency: Unusual clinical findings and novel mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 672, doi. 10.1023/A:1005502718790
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- Publication type:
- Article
32
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 82, doi. 10.1023/A:1005411601985
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- Publication type:
- Article
33
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 71, doi. 10.1023/A:1005315531630
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- Publication type:
- Article
34
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 354, doi. 10.1023/A:1005369726686
- By:
- Publication type:
- Article
35
Encefalopatía hiperamoniémica; valoración y manejo nutricional a propósito de un caso.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
36
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.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 5, p. 854, doi. 10.1038/mt.2011.32
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- Publication type:
- Article
37
903. Ornithine Transacarbamylase Deficiency Correction with Low Dose of Helper-Dependent Adenoviral Vector
- Published in:
- 2005
- By:
- Publication type:
- Abstract
38
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
- Published in:
- Pediatrics International, 2005, v. 47, n. 3, p. 262, doi. 10.1111/j.1442-200x.2005.02063.x
- By:
- Publication type:
- Article
39
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
40
Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
41
Anesthetic implications of ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Anesthesia, 2010, v. 20, n. 7, p. 666, doi. 10.1111/j.1460-9592.2010.03322.x
- By:
- Publication type:
- Article
42
Effects of dietary zinc deficiency on hepatic ornithine carbamoyltransferase and alcohol dehydrogenase activities in rats.
- Published in:
- 1985
- By:
- Publication type:
- journal article
43
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1168, doi. 10.1515/cclm-2016-0715
- By:
- Publication type:
- Article
44
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153358
- By:
- Publication type:
- Article
45
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
46
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
47
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/1048717
- By:
- Publication type:
- Article
48
In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.
- Published in:
- Gene Therapy, 2009, v. 16, n. 6, p. 820, doi. 10.1038/gt.2009.38
- By:
- Publication type:
- Article
49
Mitochondrial DNA 8993T>G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome: An Unexpected Association.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 8, p. 1059, doi. 10.1177/0883073811431015
- By:
- Publication type:
- Article
50
Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient With Ornithine Transcarbamylase Deficiency.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 7, p. 884, doi. 10.1177/0883073808331349
- By:
- Publication type:
- Article