These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 35822098)

  • 21. [Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].
    Tong W; Jin D; Sun J
    Zhonghua Er Ke Za Zhi; 2015 May; 53(5):366-9. PubMed ID: 26080667
    [TBL] [Abstract][Full Text] [Related]  

  • 22. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective
    Balestra D; Ferrarese M; Lombardi S; Ziliotto N; Branchini A; Petersen N; Bosma P; Pinotti M; van de Graaf SFJ
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33228018
    [No Abstract]   [Full Text] [Related]  

  • 23. In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency.
    Ozdemir Y; Cag M; Gul S; Yüksel Z; Ergoren MC
    Appl Immunohistochem Mol Morphol; 2022 Feb; 30(2):153-156. PubMed ID: 34670952
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency.
    Wakiya T; Sanada Y; Urahashi T; Ihara Y; Yamada N; Okada N; Ushijima K; Otomo S; Sakamoto K; Murayama K; Takayanagi M; Hakamada K; Yasuda Y; Mizuta K
    Mol Genet Metab; 2012 Mar; 105(3):404-7. PubMed ID: 22264779
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
    Arranz JA; Riudor E; Marco-Marín C; Rubio V
    J Inherit Metab Dis; 2007 Apr; 30(2):217-26. PubMed ID: 17334707
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
    Rahayatri TH; Uchida H; Sasaki K; Shigeta T; Hirata Y; Kanazawa H; Mali V; Fukuda A; Sakamoto S; Kasahara M
    Pediatr Transplant; 2017 Feb; 21(1):. PubMed ID: 27891735
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [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
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 49(5):539-547. PubMed ID: 33210478
    [TBL] [Abstract][Full Text] [Related]  

  • 28. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
    Shchelochkov OA; Li FY; Geraghty MT; Gallagher RC; Van Hove JL; Lichter-Konecki U; Fernhoff PM; Copeland S; Reimschisel T; Cederbaum S; Lee B; Chinault AC; Wong LJ
    Mol Genet Metab; 2009 Mar; 96(3):97-105. PubMed ID: 19138872
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.
    Andrews A; Roberts S; Botto LD
    Mol Genet Metab Rep; 2022 Dec; 33(Suppl 1):100891. PubMed ID: 36620387
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S; Cai Y; Shi C; Liu M; Liu B; Lin L; Xiao X; Hao H
    Med Sci Monit; 2018 Oct; 24():7431-7437. PubMed ID: 30333473
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.
    Chongsrisawat V; Damrongphol P; Ittiwut C; Ittiwut R; Suphapeetiporn K; Shotelersuk V
    Gene; 2018 Dec; 679():377-381. PubMed ID: 30223008
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.
    Rush ET; Hartmann JE; Skrabal JC; Rizzo WB
    SAGE Open Med Case Rep; 2014; 2():2050313X14546348. PubMed ID: 27489649
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.
    Trivedi M; Zafar S; Spalding MJ; Jonnalagadda S
    J Clin Gastroenterol; 2001 Apr; 32(4):340-3. PubMed ID: 11276280
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.
    Fu XH; Hu YH; Liao JX; Chen L; Hu ZQ; Wen JL; Chen SL
    World J Clin Cases; 2022 Jun; 10(18):6156-6162. PubMed ID: 35949846
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Late-onset of ornithine transcarbamylase deficiency: A rare medical examiner case.
    Gitto L; Fuller CE; Calleo VJ; Tawil M; Thach R; Revercomb C
    J Forensic Sci; 2022 Mar; 67(2):813-819. PubMed ID: 34726276
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
    Lu D; Han F; Qiu W; Zhang H; Ye J; Liang L; Wang Y; Ji W; Zhan X; Gu X; Han L
    Orphanet J Rare Dis; 2020 Dec; 15(1):340. PubMed ID: 33272297
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
    Zhang Q; Hao S; Hui L; Zheng L; Wang X; Feng X; Liu F; Chen X; Zhou B; Wang Y; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):306-311. PubMed ID: 38448019
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
    Ibrahim MS; Gold JI; Woodall A; Yilmaz BS; Gissen P; Stepien KM
    Children (Basel); 2023 Aug; 10(8):. PubMed ID: 37628367
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.
    Liu J; Dong L; Wang Y; Zhang M
    Int J Clin Exp Med; 2015; 8(2):2656-61. PubMed ID: 25932215
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
    Mak CM; Siu TS; Lam CW; Chan GC; Poon GW; Wong KY; Low LC; Tang NL; Li SK; Lau KY; Kwong NS; Tam S
    J Inherit Metab Dis; 2007 Nov; 30(6):981. PubMed ID: 17922216
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.