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 *

132 related articles for article (PubMed ID: 39221296)

  • 1. Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease.
    Anderson S; Ciarlariello M; Botti C; Velinov M
    Cureus; 2024 Aug; 16(8):e65956. PubMed ID: 39221296
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y; Jiang X; Zhang Y; Zhang Y; Sun F; Ma Y
    BMC Pregnancy Childbirth; 2024 Jul; 24(1):491. PubMed ID: 39039447
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
    Imoto K; Tanaka M; Goya T; Aoyagi T; Takahashi M; Kurokawa M; Tashiro S; Kato M; Kohjima M; Ogawa Y
    BMC Gastroenterol; 2022 Mar; 22(1):144. PubMed ID: 35346058
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
    Kido J; Sugawara K; Sawada T; Matsumoto S; Nakamura K
    Front Genet; 2022; 13():952467. PubMed ID: 36303552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
    Han ST; Anderson KJ; Bjornsson HT; Longo N; Valle D
    J Inherit Metab Dis; 2022 Jul; 45(4):710-718. PubMed ID: 35605046
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Prenatal treatment of ornithine transcarbamylase deficiency.
    Wilnai Y; Blumenfeld YJ; Cusmano K; Hintz SR; Alcorn D; Benitz WE; Berquist WE; Bernstein JA; Castillo RO; Concepcion W; Cowan TM; Cox KL; Lyell DJ; Esquivel CO; Homeyer M; Hudgins L; Hurwitz M; Palma JP; Schelley S; Akula VP; Summar ML; Enns GM
    Mol Genet Metab; 2018 Mar; 123(3):297-300. PubMed ID: 29396029
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.
    Alameri M; Shakra M; Alsaadi T
    J Med Case Rep; 2015 Nov; 9():267. PubMed ID: 26593089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With
    Nguyen HH; Khanh Nguyen N; Dung Vu C; Thu Huong Nguyen T; Nguyen NL
    Front Pediatr; 2020; 8():321. PubMed ID: 32793520
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
    Tummolo A; Favia V; Bellantuono R; Bellino V; Ranieri A; Morrone A; De Palo T; Papadia F
    Pediatr Emerg Care; 2013 May; 29(5):656-8. PubMed ID: 23640148
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency.
    Baker J; Hitchins L; Vucko E; Havens K; Becker K; Arduini K
    Mol Genet Metab Rep; 2022 Dec; 33(Suppl 1):100906. PubMed ID: 36620388
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female.
    Marquetand J; Freisinger P; Lindig T; Euler S; Gasser M; Overkamp D
    BMC Neurol; 2020 Apr; 20(1):118. PubMed ID: 32252669
    [TBL] [Abstract][Full Text] [Related]  

  • 14. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
    Lee JH; Kim GH; Yoo HW; Cheon CK
    Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
    Koya Y; Shibata M; Senju M; Honma Y; Hiura M; Ishii M; Matsumoto S; Harada M
    Intern Med; 2019 Apr; 58(7):937-942. PubMed ID: 30449781
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review.
    Pizzi MA; Alejos D; Hasan TF; Atwal PS; Krishnaiengar SR; Freeman WD
    Neurohospitalist; 2019 Jan; 9(1):30-36. PubMed ID: 30671162
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
    Sen K; Izem R; Long Y; Jiang J; Konczal LL; McCarter RJ; ; Gropman AL; Bedoyan JK
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2443. PubMed ID: 38634223
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The molecular basis of ornithine transcarbamylase deficiency.
    Tuchman M; McCullough BA; Yudkoff M
    Eur J Pediatr; 2000 Dec; 159 Suppl 3():S196-8. PubMed ID: 11216899
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.