BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 25066103)

  • 1. Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.
    Pacheco-Colón I; Fricke S; VanMeter J; Gropman AL
    Mol Genet Metab; 2014; 113(1-2):118-26. PubMed ID: 25066103
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Brain imaging in urea cycle disorders.
    Gropman A
    Mol Genet Metab; 2010; 100 Suppl 1(Suppl 1):S20-30. PubMed ID: 20207564
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The urea cycle disorders.
    Helman G; Pacheco-Colón I; Gropman AL
    Semin Neurol; 2014 Jul; 34(3):341-9. PubMed ID: 25192511
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
    Rüegger CM; Lindner M; Ballhausen D; Baumgartner MR; Beblo S; Das A; Gautschi M; Glahn EM; Grünert SC; Hennermann J; Hochuli M; Huemer M; Karall D; Kölker S; Lachmann RH; Lotz-Havla A; Möslinger D; Nuoffer JM; Plecko B; Rutsch F; Santer R; Spiekerkoetter U; Staufner C; Stricker T; Wijburg FA; Williams M; Burgard P; Häberle J
    J Inherit Metab Dis; 2014 Jan; 37(1):21-30. PubMed ID: 23780642
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
    Staretz-Chacham O; Daas S; Ulanovsky I; Blau A; Rostami N; Saraf-Levy T; Abu Salah N; Anikster Y; Banne E; Dar D; Dumin E; Fattal-Valevski A; Falik-Zaccai T; Hershkovitz E; Josefsberg S; Khammash H; Keidar R; Korman SH; Landau Y; Lerman-Sagie T; Mandel D; Mandel H; Marom R; Morag I; Nadir E; Yosha-Orpaz N; Pode-Shakked B; Pras E; Reznik-Wolf H; Saada A; Segel R; Shaag A; Shaul Lotan N; Spiegel R; Tal G; Vaisid T; Zeharia A; Almashanu S
    J Inherit Metab Dis; 2021 May; 44(3):606-617. PubMed ID: 33190319
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Long-term outcome and intervention of urea cycle disorders in Japan.
    Kido J; Nakamura K; Mitsubuchi H; Ohura T; Takayanagi M; Matsuo M; Yoshino M; Shigematsu Y; Yorifuji T; Kasahara M; Horikawa R; Endo F
    J Inherit Metab Dis; 2012 Sep; 35(5):777-85. PubMed ID: 22167275
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.
    Sprouse C; King J; Helman G; Pacheco-Colón I; Shattuck K; Breeden A; Seltzer R; VanMeter JW; Gropman AL
    Mol Genet Metab; 2014; 113(1-2):136-41. PubMed ID: 24881970
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Urea cycle defects and hyperammonemia: effects on functional imaging.
    Gropman AL; Prust M; Breeden A; Fricke S; VanMeter J
    Metab Brain Dis; 2013 Jun; 28(2):269-75. PubMed ID: 23149878
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.
    Gropman AL; Seltzer RR; Yudkoff M; Sawyer A; VanMeter J; Fricke ST
    Mol Genet Metab; 2008 May; 94(1):52-60. PubMed ID: 18262815
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
    Ah Mew N; Krivitzky L; McCarter R; Batshaw M; Tuchman M;
    J Pediatr; 2013 Feb; 162(2):324-9.e1. PubMed ID: 22901741
    [TBL] [Abstract][Full Text] [Related]  

  • 13. In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
    Opladen T; Lindner M; Das AM; Marquardt T; Khan A; Emre SH; Burton BK; Barshop BA; Böhm T; Meyburg J; Zangerl K; Mayorandan S; Burgard P; Dürr UH; Rosenkranz B; Rennecke J; Derbinski J; Yudkoff M; Hoffmann GF
    Mol Genet Metab; 2016 Jan; 117(1):19-26. PubMed ID: 26597322
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical manifestations and growth of patients with urea cycle disorders in Japan.
    Nakamura K; Kido J; Matsumoto S; Mitsubuchi H; Endo F
    J Hum Genet; 2016 Jul; 61(7):613-6. PubMed ID: 26935171
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.
    Scaglia F; Zheng Q; O'Brien WE; Henry J; Rosenberger J; Reeds P; Lee B
    Pediatrics; 2002 Jan; 109(1):150-2. PubMed ID: 11773558
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.
    Singh S; Pal S; Dubrey SW
    BMJ Case Rep; 2016 Jan; 2016():. PubMed ID: 26791129
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue.
    Sen K; Anderson AA; Whitehead MT; Gropman AL
    Front Neurol; 2021; 12():632307. PubMed ID: 33995244
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.