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 *

206 related articles for article (PubMed ID: 38060187)

  • 1. Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.
    Piombarolo A; Ialongo C; Bizzarri M; Angeloni A
    Methods Mol Biol; 2024; 2745():191-210. PubMed ID: 38060187
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
    Wang W; Yang J; Xue J; Mu W; Zhang X; Wu W; Xu M; Gong Y; Liu Y; Zhang Y; Xie X; Gu W; Bai J; Cram DS
    BMC Med Genet; 2019 Jan; 20(1):3. PubMed ID: 30612563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
    Rajabi F; Rohr F; Wessel A; Martell L; Dobrowolski SF; Guldberg P; Güttler F; Levy HL
    Mol Genet Metab; 2019 Dec; 128(4):415-421. PubMed ID: 31623983
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
    Shu JB; Meng YT; Dang LH; Fu BJ; Song L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
    Erlandsen H; Stevens RC
    J Inherit Metab Dis; 2001 Apr; 24(2):213-30. PubMed ID: 11405341
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Carriers of autosomal recessive conditions: are they really 'unaffected?'.
    Hames A; Khan S; Gilliland C; Goldman L; Lo HW; Magda K; Keathley J
    J Med Genet; 2023 Dec; 61(1):1-7. PubMed ID: 37775265
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
    Zhang C; Zhang P; Yan Y; Zhou B; Wang Y; Tian X; Hao S; Ma P; Zheng L; Zhang Q; Hui L; Wang Y; Cao Z; Ma X
    Hum Genomics; 2023 Apr; 17(1):36. PubMed ID: 37098607
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
    Zhu T; Ye J; Han L; Qiu W; Zhang H; Liang L; Gu X
    Gene; 2013 Oct; 529(1):80-7. PubMed ID: 23932990
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.
    Svensson E; Iselius L; Hagenfeldt L
    J Inherit Metab Dis; 1994; 17(2):215-22. PubMed ID: 7967476
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Competitive, multi-objective, and compartmented Flux Balance Analysis for addressing tissue-specific inborn errors of metabolism.
    Liu Y; Westerhoff HV
    J Inherit Metab Dis; 2023 Jul; 46(4):573-585. PubMed ID: 36880400
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
    Polak E; Ficek A; Radvanszky J; Soltysova A; Urge O; Cmelova E; Kantarska D; Kadasi L
    Gene; 2013 Sep; 526(2):347-55. PubMed ID: 23764561
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
    Güttler F; Guldberg P
    Eur J Pediatr; 1996 Jul; 155 Suppl 1():S6-10. PubMed ID: 8828600
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
    Bercovich D; Elimelech A; Zlotogora J; Korem S; Yardeni T; Gal N; Goldstein N; Vilensky B; Segev R; Avraham S; Loewenthal R; Schwartz G; Anikster Y
    J Hum Genet; 2008; 53(5):407-418. PubMed ID: 18299955
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
    Zastrow DB; Baudet H; Shen W; Thomas A; Si Y; Weaver MA; Lager AM; Liu J; Mangels R; Dwight SS; Wright MW; Dobrowolski SF; Eilbeck K; Enns GM; Feigenbaum A; Lichter-Konecki U; Lyon E; Pasquali M; Watson M; Blau N; Steiner RD; Craigen WJ; Mao R;
    Hum Mutat; 2018 Nov; 39(11):1569-1580. PubMed ID: 30311390
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
    Singh K; Cornell CS; Jackson R; Kabiri M; Phipps M; Desai M; Fogle R; Ying X; Anarat-Cappillino G; Geller S; Johnson J; Roberts E; Malley K; Devlin T; DeRiso M; Berthelette P; Zhang YV; Ryan S; Rao S; Thurberg BL; Bangari DS; Kyostio-Moore S
    Sci Rep; 2021 Mar; 11(1):7254. PubMed ID: 33790381
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.