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 *

318 related articles for article (PubMed ID: 31426867)

  • 1. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
    Silvera-Ruiz SM; Arranz JA; Häberle J; Angaroni CJ; Bezard M; Guelbert N; Becerra A; Peralta F; de Kremer RD; Laróvere LE
    Orphanet J Rare Dis; 2019 Aug; 14(1):203. PubMed ID: 31426867
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
    Bijarnia-Mahay S; Häberle J; Jalan AB; Puri RD; Kohli S; Kudalkar K; Rüfenacht V; Gupta D; Maurya D; Verma J; Shigematsu Y; Yamaguchi S; Saxena R; Verma IC
    Orphanet J Rare Dis; 2018 Oct; 13(1):174. PubMed ID: 30285816
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
    Zheng Z; Lin Y; Lin W; Zhu L; Jiang M; Wang W; Fu Q
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1301. PubMed ID: 32410394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
    Zhou Q; Huang H; Ma L; Zhu T
    Biomed Res Int; 2020; 2020():5690915. PubMed ID: 32934962
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
    Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW
    J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Histopathological findings in livers of patients with urea cycle disorders.
    Yaplito-Lee J; Chow CW; Boneh A
    Mol Genet Metab; 2013 Mar; 108(3):161-5. PubMed ID: 23403242
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
    Unsinn C; Das A; Valayannopoulos V; Thimm E; Beblo S; Burlina A; Konstantopoulou V; Mayorandan S; de Lonlay P; Rennecke J; Derbinski J; Hoffmann GF; Häberle J
    Orphanet J Rare Dis; 2016 Aug; 11(1):116. PubMed ID: 27538463
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hereditary urea cycle diseases in Finland.
    Keskinen P; Siitonen A; Salo M
    Acta Paediatr; 2008 Oct; 97(10):1412-9. PubMed ID: 18616627
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
    Kido J; Matsumoto S; Sugawara K; Sawada T; Nakamura K
    Am J Med Genet A; 2021 Jul; 185(7):2026-2036. PubMed ID: 33851512
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
    Erez A; Nagamani SC; Lee B
    Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.
    Özçay F; Barış Z; Moray G; Haberal N; Torgay A; Haberal M
    Exp Clin Transplant; 2015 Nov; 13 Suppl 3():126-30. PubMed ID: 26640932
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
    Waisbren SE; Gropman AL; ; Batshaw ML
    J Inherit Metab Dis; 2016 Jul; 39(4):573-84. PubMed ID: 27215558
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
    Kölker S; Garcia-Cazorla A; Valayannopoulos V; Lund AM; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Augoustides-Savvopoulou P; Aksglaede L; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Chabrol B; Chakrapani A; Chapman K; I Saladelafont EC; Couce ML; de Meirleir L; Dobbelaere D; Dvorakova V; Furlan F; Gleich F; Gradowska W; Grünewald S; Jalan A; Häberle J; Haege G; Lachmann R; Laemmle A; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; de Baulny HO; Ortez C; Peña-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Staufner C; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Burgard P
    J Inherit Metab Dis; 2015 Nov; 38(6):1041-57. PubMed ID: 25875215
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Argininosuccinate lyase deficiency.
    Nagamani SC; Erez A; Lee B
    Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
    Pontoizeau C; Roda C; Arnoux JB; Vignolo-Diard P; Brassier A; Habarou F; Barbier V; Grisel C; Abi-Warde MT; Boddaert N; Kuster A; Servais A; Kaminska A; Hennequin C; Dupic L; Lesage F; Touati G; Valayannopoulos V; Chadefaux-Vekemans B; Oualha M; Eisermann M; Ottolenghi C; de Lonlay P
    Mol Genet Metab; 2020 Jun; 130(2):110-117. PubMed ID: 32273051
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.
    Liu F; Bao LS; Liang RJ; Zhao XY; Li Z; Du ZF; Lv SG
    J Cell Mol Med; 2021 Apr; 25(8):4099-4109. PubMed ID: 33611823
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders.
    Soria LR; Gurung S; De Sabbata G; Perocheau DP; De Angelis A; Bruno G; Polishchuk E; Paris D; Cuomo P; Motta A; Orford M; Khalil Y; Eaton S; Mills PB; Waddington SN; Settembre C; Muro AF; Baruteau J; Brunetti-Pierri N
    EMBO Mol Med; 2021 Feb; 13(2):e13158. PubMed ID: 33369168
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
    Lopes FF; Sitta A; de Moura Coelho D; Ribas GS; Faverzani JL; Dos Reis BG; Wajner M; Vargas CR
    Int J Dev Neurosci; 2022 Dec; 82(8):772-788. PubMed ID: 36129623
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
    Posset R; Kölker S; Gleich F; Okun JG; Gropman AL; Nagamani SCS; Scharre S; Probst J; Walter ME; Hoffmann GF; Garbade SF; Zielonka M;
    Mol Genet Metab; 2020 Dec; 131(4):390-397. PubMed ID: 33288448
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The incidence of urea cycle disorders.
    Summar ML; Koelker S; Freedenberg D; Le Mons C; Haberle J; Lee HS; Kirmse B; ;
    Mol Genet Metab; 2013; 110(1-2):179-80. PubMed ID: 23972786
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.