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 *

130 related articles for article (PubMed ID: 37702610)

  • 1. The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
    Posset R; Zielonka M; Gleich F; Garbade SF; Hoffmann GF; Kölker S;
    J Inherit Metab Dis; 2023 Nov; 46(6):1007-1016. PubMed ID: 37702610
    [TBL] [Abstract][Full Text] [Related]  

  • 2. On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.
    Summar ML; Endo F; Kölker S
    Mol Genet Metab; 2014; 113(1-2):105-8. PubMed ID: 25261246
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
    Posset R; Garbade SF; Gleich F; Gropman AL; de Lonlay P; Hoffmann GF; Garcia-Cazorla A; Nagamani SCS; Baumgartner MR; Schulze A; Dobbelaere D; Yudkoff M; Kölker S; Zielonka M; ;
    Sci Rep; 2020 Jul; 10(1):11948. PubMed ID: 32686765
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
    Seminara J; Tuchman M; Krivitzky L; Krischer J; Lee HS; Lemons C; Baumgartner M; Cederbaum S; Diaz GA; Feigenbaum A; Gallagher RC; Harding CO; Kerr DS; Lanpher B; Lee B; Lichter-Konecki U; McCandless SE; Merritt JL; Oster-Granite ML; Seashore MR; Stricker T; Summar M; Waisbren S; Yudkoff M; Batshaw ML
    Mol Genet Metab; 2010; 100 Suppl 1(Suppl 1):S97-105. PubMed ID: 20188616
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
    Mütze U; Gleich F; Barić I; Baumgartner M; Burlina A; Chapman KA; Chien YH; Cortès-Saladelafont E; De Laet C; Dobbelaere D; Eysken F; Gautschi M; Santer R; Häberle J; Joaquín C; Karall D; Lindner M; Lund AM; Mühlhausen C; Murphy E; Roland D; Ruiz Gomez A; Skouma A; Grünert SC; Wagenmakers M; Garbade SF; Kölker S; Boy N
    J Inherit Metab Dis; 2023 Mar; 46(2):220-231. PubMed ID: 36266255
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A longitudinal study of urea cycle disorders.
    Batshaw ML; Tuchman M; Summar M; Seminara J;
    Mol Genet Metab; 2014; 113(1-2):127-30. PubMed ID: 25135652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. U-IMD: the first Unified European registry for inherited metabolic diseases.
    Opladen T; Gleich F; Kozich V; Scarpa M; Martinelli D; Schaefer F; Jeltsch K; Juliá-Palacios N; García-Cazorla Á; Dionisi-Vici C; Kölker S
    Orphanet J Rare Dis; 2021 Feb; 16(1):95. PubMed ID: 33602304
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
    Posset R; Garbade SF; Boy N; Burlina AB; Dionisi-Vici C; Dobbelaere D; Garcia-Cazorla A; de Lonlay P; Teles EL; Vara R; Mew NA; Batshaw ML; Baumgartner MR; McCandless SE; Seminara J; Summar M; Hoffmann GF; Kölker S; Burgard P;
    J Inherit Metab Dis; 2019 Jan; 42(1):93-106. PubMed ID: 30740724
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012.
    Perito ER; Rhee S; Roberts JP; Rosenthal P
    Liver Transpl; 2014 Jan; 20(1):89-99. PubMed ID: 24136671
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
    Jamiolkowski D; Kölker S; Glahn EM; Barić I; Zeman J; Baumgartner MR; Mühlhausen C; Garcia-Cazorla A; Gleich F; Haege G; Burgard P;
    J Inherit Metab Dis; 2016 Mar; 39(2):231-41. PubMed ID: 26310964
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
    Posset R; Garcia-Cazorla A; Valayannopoulos V; Teles EL; Dionisi-Vici C; Brassier A; Burlina AB; Burgard P; Cortès-Saladelafont E; Dobbelaere D; Couce ML; Sykut-Cegielska J; Häberle J; Lund AM; Chakrapani A; Schiff M; Walter JH; Zeman J; Vara R; Kölker S;
    J Inherit Metab Dis; 2016 Sep; 39(5):661-672. PubMed ID: 27106216
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
    Nettesheim S; Kölker S; Karall D; Häberle J; Posset R; Hoffmann GF; Heinrich B; Gleich F; Garbade SF;
    Orphanet J Rare Dis; 2017 Jun; 12(1):111. PubMed ID: 28619060
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
    Posset R; Gropman AL; Nagamani SCS; Burrage LC; Bedoyan JK; Wong D; Berry GT; Baumgartner MR; Yudkoff M; Zielonka M; Hoffmann GF; Burgard P; Schulze A; McCandless SE; Garcia-Cazorla A; Seminara J; Garbade SF; Kölker S;
    Ann Neurol; 2019 Jul; 86(1):116-128. PubMed ID: 31018246
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
    Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Lund AM; Rizopoulos D; Kölker S; Williams M;
    Mol Genet Metab; 2019 Apr; 126(4):397-405. PubMed ID: 30827756
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Developing interactions with industry in rare diseases: lessons learned and continuing challenges.
    Berry SA; Coughlin CR; McCandless S; McCarter R; Seminara J; Yudkoff M; LeMons C
    Genet Med; 2020 Jan; 22(1):219-226. PubMed ID: 31337884
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
    Molema F; Gleich F; Burgard P; van der Ploeg AT; Summar ML; Chapman KA; Barić I; Lund AM; Kölker S; Williams M;
    J Inherit Metab Dis; 2019 Nov; 42(6):1162-1175. PubMed ID: 30734935
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.
    Kölker S; Gleich F; Mütze U; Opladen T
    Front Endocrinol (Lausanne); 2022; 13():832063. PubMed ID: 35317224
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.
    McGuire PJ; Lee HS; ; Summar ML
    J Pediatr; 2013 Dec; 163(6):1705-1710.e1. PubMed ID: 24084106
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.
    Kölker S; Dobbelaere D; Häberle J; Burgard P; Gleich F; Summar ML; Hannigan S; Parker S; Chakrapani A; Baumgartner MR;
    JIMD Rep; 2015; 22():29-38. PubMed ID: 25701269
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.