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 *

420 related articles for article (PubMed ID: 26835324)

  • 21. In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.
    Ho G; Reichardt J; Christodoulou J
    J Inherit Metab Dis; 2013 Nov; 36(6):955-9. PubMed ID: 23532445
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenylketonuria: an inborn error of phenylalanine metabolism.
    Williams RA; Mamotte CD; Burnett JR
    Clin Biochem Rev; 2008 Feb; 29(1):31-41. PubMed ID: 18566668
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.
    Lachmann R
    Ther Adv Endocrinol Metab; 2011 Jun; 2(3):127-33. PubMed ID: 23148178
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Emerging biosensors in Phenylketonuria.
    Shyam R; Sekhar Panda H; Mishra J; Jyoti Panda J; Kour A
    Clin Chim Acta; 2024 Jun; 559():119725. PubMed ID: 38734223
    [TBL] [Abstract][Full Text] [Related]  

  • 25. An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.
    Wasim M; Awan FR; Khan HN; Ayesha H
    Crit Rev Eukaryot Gene Expr; 2018; 28(2):177-185. PubMed ID: 30055544
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The PAH gene, phenylketonuria, and a paradigm shift.
    Scriver CR
    Hum Mutat; 2007 Sep; 28(9):831-45. PubMed ID: 17443661
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
    Klaassen K; Djordjevic M; Skakic A; Desviat LR; Pavlovic S; Perez B; Stojiljkovic M
    Biochem Genet; 2018 Oct; 56(5):533-541. PubMed ID: 29654578
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.
    Blau N
    Expert Opin Drug Metab Toxicol; 2013 Sep; 9(9):1207-18. PubMed ID: 23705856
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Phenylketonuria: Current Treatments and Future Developments.
    Lichter-Konecki U; Vockley J
    Drugs; 2019 Apr; 79(5):495-500. PubMed ID: 30864096
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Phenylketonuria (PKU) in Iceland].
    Oddason KE; Eiriksdóttir L; Franzson L; Dagbjartsson A
    Laeknabladid; 2011 Jun; 97(6):349-52. PubMed ID: 21659675
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria.
    Trefz FK; Belanger-Quintana A
    Drugs Today (Barc); 2010 Aug; 46(8):589-600. PubMed ID: 20830319
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].
    Qu YJ; Song F; Jin YW; Wang H; Zhang YM; Qin JL; Qiu L
    Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.
    Burlina A; Leuzzi V; Spada M; Carbone MT; Paci S; Tummolo A
    Curr Med Res Opin; 2021 Mar; 37(3):411-421. PubMed ID: 33222540
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
    Ding Z; Georgiev P; Thöny B
    Gene Ther; 2006 Apr; 13(7):587-93. PubMed ID: 16319947
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.
    Demirdas S; Maurice-Stam H; Boelen CC; Hofstede FC; Janssen MC; Langendonk JG; Mulder MF; Rubio-Gozalbo ME; van Spronsen FJ; de Vries M; Grootenhuis MA; Bosch AM
    Mol Genet Metab; 2013; 110 Suppl():S49-56. PubMed ID: 24100246
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
    Ho G; Alexander I; Bhattacharya K; Dennison B; Ellaway C; Thompson S; Wilcken B; Christodoulou J
    JIMD Rep; 2014; 14():55-65. PubMed ID: 24368688
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
    Zeile WL; McCune HC; Musson DG; O'Donnell B; O'Neill CA; Tsuruda LS; Zori RT; Laipis PJ
    Pediatr Res; 2018 Apr; 83(4):889-896. PubMed ID: 29278642
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria.
    Rohr F; Wessel A; Brown M; Charette K; Levy HL
    Mol Genet Metab; 2015 Jan; 114(1):25-8. PubMed ID: 25467057
    [TBL] [Abstract][Full Text] [Related]  

  • 39.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 21.