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 *

200 related articles for article (PubMed ID: 34900593)

  • 21. 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]  

  • 22. Mutational spectrum of phenylketonuria in Jiangsu province.
    Chen YF; Jia HT; Chen ZH; Song JP; Liang Y; Pei JJ; Wu ZJ; Wang J; Qiu YL; Liu G; Sun DM; Jiang XY
    Eur J Pediatr; 2015 Oct; 174(10):1333-8. PubMed ID: 25894915
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.
    Güttler F; Guldberg P
    Acta Paediatr Suppl; 1994 Dec; 407():49-56. PubMed ID: 7766959
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
    Shirzadeh T; Saeidian AH; Bagherian H; Salehpour S; Setoodeh A; Alaei MR; Youssefian L; Samavat A; Touati A; Fallah MS; Vahidnezhad H; Karimipoor M; Azadmehr S; Raeisi M; Bandehi Sarhadi A; Zafarghandi Motlagh F; Jamali M; Zeinali Z; Abiri M; Zeinali S;
    J Inherit Metab Dis; 2018 Nov; 41(6):1159-1167. PubMed ID: 30159852
    [TBL] [Abstract][Full Text] [Related]  

  • 29. PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
    Romano V; Guldberg P; Güttler F; Meli C; Mollica F; Pavone L; Giovannini M; Riva E; Biasucci G; Luotti D; Palillo L; Calí F; Ceratto N; Anello G; Bosco P
    J Inherit Metab Dis; 1996; 19(1):15-24. PubMed ID: 8830172
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
    Tresbach RH; Sperb-Ludwig F; Ligabue-Braun R; Tonon T; de Oliveira Cardoso MT; Heredia RS; da Silva Rosa MTA; Martins BC; Poubel MO; da Silva LCS; Maillot F; Schwartz IVD
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33375644
    [TBL] [Abstract][Full Text] [Related]  

  • 31. HPLC for confirmatory diagnosis and biochemical monitoring of Cuban patients with hyperphenylalaninemias.
    Contreras J; Alonso E; Fuentes LE
    MEDICC Rev; 2015 Jan; 17(1):23-8. PubMed ID: 25725765
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Modeling autism by SHANK gene mutations in mice.
    Jiang YH; Ehlers MD
    Neuron; 2013 Apr; 78(1):8-27. PubMed ID: 23583105
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
    Patalan M; Leśniak A; Bernatowicz K; Romanowska H; Krzywińska-Zdeb E; Walczak M; Giżewska M
    Int J Environ Res Public Health; 2022 Feb; 19(5):. PubMed ID: 35270292
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Comparison of genotype and intellectual phenotype in untreated PKU patients.
    Ramus SJ; Forrest SM; Pitt DB; Saleeba JA; Cotton RG
    J Med Genet; 1993 May; 30(5):401-5. PubMed ID: 8320703
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Intellectual development and academic achievement of children treated early for phenylketonuria.
    Berry HK; O'Grady DJ; Perlmutter LJ; Bofinger MK
    Dev Med Child Neurol; 1979 Jun; 21(3):311-20. PubMed ID: 467815
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Genetic Landscape and Epidemiology of Phenylketonuria.
    Hillert A; Anikster Y; Belanger-Quintana A; Burlina A; Burton BK; Carducci C; Chiesa AE; Christodoulou J; Đorđević M; Desviat LR; Eliyahu A; Evers RAF; Fajkusova L; Feillet F; Bonfim-Freitas PE; Giżewska M; Gundorova P; Karall D; Kneller K; Kutsev SI; Leuzzi V; Levy HL; Lichter-Konecki U; Muntau AC; Namour F; Oltarzewski M; Paras A; Perez B; Polak E; Polyakov AV; Porta F; Rohrbach M; Scholl-Bürgi S; Spécola N; Stojiljković M; Shen N; Santana-da Silva LC; Skouma A; van Spronsen F; Stoppioni V; Thöny B; Trefz FK; Vockley J; Yu Y; Zschocke J; Hoffmann GF; Garbade SF; Blau N
    Am J Hum Genet; 2020 Aug; 107(2):234-250. PubMed ID: 32668217
    [TBL] [Abstract][Full Text] [Related]  

  • 39. In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
    Vela-Amieva M; Alcántara-Ortigoza MA; González-Del Angel A; Ibarra-González I; Fernández-Hernández L; Guillén-López S; López-Mejía L; Fernández-Lainez C
    Children (Basel); 2023 Nov; 10(12):. PubMed ID: 38136067
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The emerging role of SHANK genes in neuropsychiatric disorders.
    Guilmatre A; Huguet G; Delorme R; Bourgeron T
    Dev Neurobiol; 2014 Feb; 74(2):113-22. PubMed ID: 24124131
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.