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)

  • 41. Untreated PKU patients without intellectual disability:
    Klaassen K; Djordjevic M; Skakic A; Kecman B; Drmanac R; Pavlovic S; Stojiljkovic M
    Mol Genet Metab Rep; 2021 Dec; 29():100822. PubMed ID: 34900593
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Phenylketonuria.
    van Spronsen FJ; Blau N; Harding C; Burlina A; Longo N; Bosch AM
    Nat Rev Dis Primers; 2021 May; 7(1):36. PubMed ID: 34017006
    [TBL] [Abstract][Full Text] [Related]  

  • 43. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
    Winn SR; Scherer T; Thöny B; Harding CO
    Mol Genet Metab; 2016 Jan; 117(1):5-11. PubMed ID: 26653793
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Genetics of Phenylketonuria: Then and Now.
    Blau N
    Hum Mutat; 2016 Jun; 37(6):508-15. PubMed ID: 26919687
    [TBL] [Abstract][Full Text] [Related]  

  • 45. The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
    Leandro J; Saraste J; Leandro P; Flatmark T
    Mol Genet Metab; 2011; 104 Suppl():S40-4. PubMed ID: 21871828
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
    Dobrowolski SF; Ellingson C; Coyne T; Grey J; Martin R; Naylor EW; Koch R; Levy HL
    Mol Genet Metab; 2007 Jul; 91(3):218-27. PubMed ID: 17502162
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.
    Tao R; Xiao L; Zhou L; Zheng Z; Long J; Zhou L; Tang M; Dong B; Yao S
    Mol Ther Methods Clin Dev; 2020 Dec; 19():507-517. PubMed ID: 33335942
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A new therapy prevents intellectual disability in mouse with phenylketonuria.
    Pascucci T; Rossi L; Colamartino M; Gabucci C; Carducci C; Valzania A; Sasso V; Bigini N; Pierigè F; Viscomi MT; Ventura R; Cabib S; Magnani M; Puglisi-Allegra S; Leuzzi V
    Mol Genet Metab; 2018 May; 124(1):39-49. PubMed ID: 29661557
    [TBL] [Abstract][Full Text] [Related]  

  • 49. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
    Wang ZW; Jiang SW; Zhou BC
    Kaohsiung J Med Sci; 2018 Feb; 34(2):89-94. PubMed ID: 29413232
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
    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; 1999 Aug; 104(2 Pt 1):258-62. PubMed ID: 10429004
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.
    Burton BK; Nowacka M; Hennermann JB; Lipson M; Grange DK; Chakrapani A; Trefz F; Dorenbaum A; Imperiale M; Kim SS; Fernhoff PM
    Mol Genet Metab; 2011 Aug; 103(4):315-22. PubMed ID: 21646032
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Biopterin responsive phenylalanine hydroxylase deficiency.
    Matalon R; Koch R; Michals-Matalon K; Moseley K; Surendran S; Tyring S; Erlandsen H; Gamez A; Stevens RC; Romstad A; Møller LB; Guttler F
    Genet Med; 2004; 6(1):27-32. PubMed ID: 14726806
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.
    Razipour M; Kooshavar D; Alavinejad E; Sajedi SZ; Mohajer N; Setoodeh A; Talebi S; Keramatipour M
    Iran J Public Health; 2017 Apr; 46(4):560-564. PubMed ID: 28540274
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
    Muntau AC; Burlina A; Eyskens F; Freisinger P; De Laet C; Leuzzi V; Rutsch F; Sivri HS; Vijay S; Bal MO; Gramer G; Pazdírková R; Cleary M; Lotz-Havla AS; Munafo A; Mould DR; Moreau-Stucker F; Rogoff D
    Orphanet J Rare Dis; 2017 Mar; 12(1):47. PubMed ID: 28274234
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
    Kasnauskiene J; Cimbalistiene L; Kucinskas V
    Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
    [TBL] [Abstract][Full Text] [Related]  

  • 57. [Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].
    Rey F; Abadie V; Lyonnet S; Berthelon M; Caillaud C; Melle D; Labrune P; Saudubray JM; Munnich A; Rey J
    Arch Fr Pediatr; 1992 Oct; 49(8):705-10. PubMed ID: 1288453
    [TBL] [Abstract][Full Text] [Related]  

  • 58. AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.
    Richards DY; Winn SR; Dudley S; Nygaard S; Mighell TL; Grompe M; Harding CO
    Mol Ther Methods Clin Dev; 2020 Jun; 17():234-245. PubMed ID: 31970201
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
    Zimmermann M; Jacobs P; Fingerhut R; Torresani T; Thöny B; Blau N; Baumgartner MR; Rohrbach M
    Mol Genet Metab; 2012 Jul; 106(3):264-8. PubMed ID: 22607939
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.
    Rossi L; Pierigè F; Carducci C; Gabucci C; Pascucci T; Canonico B; Bell SM; Fitzpatrick PA; Leuzzi V; Magnani M
    J Control Release; 2014 Nov; 194():37-44. PubMed ID: 25151978
    [TBL] [Abstract][Full Text] [Related]  

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