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 *

250 related articles for article (PubMed ID: 36791482)

  • 1. Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control.
    Moritz L; Klotz K; Grünert SC; Hannibal L; Spiekerkoetter U
    Mol Genet Metab; 2023 Mar; 138(3):107509. PubMed ID: 36791482
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic etiology and clinical challenges of phenylketonuria.
    Elhawary NA; AlJahdali IA; Abumansour IS; Elhawary EN; Gaboon N; Dandini M; Madkhali A; Alosaimi W; Alzahrani A; Aljohani F; Melibary EM; Kensara OA
    Hum Genomics; 2022 Jul; 16(1):22. PubMed ID: 35854334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
    Levy H; Lamppu D; Anastosoaie V; Baker JL; DiBona K; Hawthorne S; Lindenberger J; Kinch D; Seymour A; McIlduff M; Watling S; Vockley J
    Mol Genet Metab; 2020 Mar; 129(3):177-185. PubMed ID: 31883647
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pah
    Lu LH; Xia ZX; Guo JL; Xiao LL; Zhang YJ
    CNS Neurosci Ther; 2020 Apr; 26(4):486-493. PubMed ID: 31471952
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
    Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R
    Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Metabolomics for improved treatment monitoring of phenylketonuria: urinary biomarkers for non-invasive assessment of dietary adherence and nutritional deficiencies.
    Wild J; Shanmuganathan M; Hayashi M; Potter M; Britz-McKibbin P
    Analyst; 2019 Nov; 144(22):6595-6608. PubMed ID: 31608347
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Neonatal phenylalanine wash-out in phenylketonuria.
    Porta F; Ponzone A; Spada M
    Metab Brain Dis; 2020 Oct; 35(7):1225-1229. PubMed ID: 32661828
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.
    Khan SM; Heister RR; Keathley JR
    Lifestyle Genom; 2024; 17(1):102-112. PubMed ID: 39079504
    [TBL] [Abstract][Full Text] [Related]  

  • 10. DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.
    Dobrowolski SF; Lyons-Weiler J; Spridik K; Vockley J; Skvorak K; Biery A
    Mol Genet Metab; 2016 Sep; 119(1-2):1-7. PubMed ID: 26822703
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Transient phenylketonuria in premature infants.
    Salamanca-Zarzuela B; López MEI; Martín CA
    Nutrition; 2019 Mar; 59():180-181. PubMed ID: 30504004
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer.
    Oh HJ; Park ES; Kang S; Jo I; Jung SC
    Pediatr Res; 2004 Aug; 56(2):278-84. PubMed ID: 15181195
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New protein structures provide an updated understanding of phenylketonuria.
    Jaffe EK
    Mol Genet Metab; 2017 Aug; 121(4):289-296. PubMed ID: 28645531
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reversal of metabolic and neurological symptoms of phenylketonuric mice treated with a PAH containing helper-dependent adenoviral vector.
    Cerreto M; Mehdawy B; Ombrone D; Nisticò R; Ruoppolo M; Usiello A; Daniele A; Pastore L; Salvatore F
    Curr Gene Ther; 2012 Feb; 12(1):48-56. PubMed ID: 22348550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
    Porta F; Giorda S; Ponzone A; Spada M
    J Pediatr Endocrinol Metab; 2020 Dec; 33(12):1519-1523. PubMed ID: 33581706
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.
    Dobrowolski SF; Phua YL; Vockley J; Goetzman E; Blair HC
    Mol Genet Metab; 2022 Jun; 136(2):111-117. PubMed ID: 35379539
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.
    Martins AM; Pessoa ALS; Quesada AA; Ribeiro EM
    Mol Genet Metab Rep; 2020 Sep; 24():100624. PubMed ID: 32742934
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
    Cleary M; Trefz F; Muntau AC; Feillet F; van Spronsen FJ; Burlina A; Bélanger-Quintana A; Giżewska M; Gasteyger C; Bettiol E; Blau N; MacDonald A
    Mol Genet Metab; 2013 Dec; 110(4):418-23. PubMed ID: 24090706
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New findings about neuropathological outcomes in the PKU mouse throughout lifespan.
    Bregalda A; Carducci C; Pascucci T; Ambrogini P; Sartini S; Pierigè F; di Carlo E; Fiori E; Ielpo D; Pagliarini M; Leuzzi V; Magnani M; Rossi L
    Mol Genet Metab; 2024; 143(1-2):108543. PubMed ID: 39047302
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.