BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 36515074)

  • 1. Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
    Daas S; Abu Salah N; Anikster Y; Barel O; Damseh NS; Dumin E; Fattal-Valevski A; Falik-Zaccai TC; Habib C; Josefsberg S; Korman SH; Kneller K; Landau Y; Lerman-Sagie T; Mandel H; Manor Y; Moady Abdalla T; Rock R; Rostami N; Saada A; Saraf-Levy T; Shaul Lotan N; Spiegel R; Staretz-Chacham O; Tal G; Ulanovsky I; Vaisid T; Wilnai Y; Almashanu S
    J Inherit Metab Dis; 2023 Mar; 46(2):232-242. PubMed ID: 36515074
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
    Welling L; Boelen A; Derks TG; Schielen PC; de Vries M; Williams M; Wijburg FA; Bosch AM
    Mol Genet Metab; 2017 Mar; 120(3):223-228. PubMed ID: 28065439
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GALT Deficiency Galactosemia.
    Anderson S
    MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Importance of Neonatal Screening for Galactosemia.
    Badiu Tișa I; Achim AC; Cozma-Petruț A
    Nutrients; 2022 Dec; 15(1):. PubMed ID: 36615667
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
    Hong X; Kumar AB; Ronald Scott C; Gelb MH
    Mol Genet Metab; 2018 Jun; 124(2):101-108. PubMed ID: 29680633
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Galactosemia: when is it a newborn screening emergency?
    Berry GT
    Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
    Succoio M; Sacchettini R; Rossi A; Parenti G; Ruoppolo M
    Biomolecules; 2022 Jul; 12(7):. PubMed ID: 35883524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
    Dobrowolski SF; Banas RA; Suzow JG; Berkley M; Naylor EW
    J Mol Diagn; 2003 Feb; 5(1):42-7. PubMed ID: 12552079
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader.
    Fujimoto A; Okano Y; Miyagi T; Isshiki G; Oura T
    Clin Chem; 2000 Jun; 46(6 Pt 1):806-10. PubMed ID: 10839768
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
    Freer DE; Ficicioglu C; Finegold D
    Clin Chem; 2010 Mar; 56(3):437-44. PubMed ID: 20075179
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
    Lee JY; Padilla CD; Chua EL
    Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():66-8. PubMed ID: 11405207
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Florida newborn screening for galactosemia.
    DeClue TJ; Malone JI; Tedesco TA
    J Fla Med Assoc; 1991 Jun; 78(6):369-71. PubMed ID: 1831492
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Issues on universal screening for galactosemia.
    Padilla CD; Lam ST
    Ann Acad Med Singap; 2008 Dec; 37(12 Suppl):39-3. PubMed ID: 19904445
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.
    Ko DH; Jun SH; Park KU; Song SH; Kim JQ; Song J
    J Inherit Metab Dis; 2011 Apr; 34(2):409-14. PubMed ID: 21340634
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of inherited disorders of galactose metabolism.
    Cuthbert C; Klapper H; Elsas L
    Curr Protoc Hum Genet; 2008 Jan; Chapter 17():Unit 17.5. PubMed ID: 18428423
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
    Stroek K; Bouva MJ; Schielen PCJI; Vaz FM; Heijboer AC; de Jonge R; Boelen A; Bosch AM
    Mol Genet Metab; 2018 May; 124(1):50-56. PubMed ID: 29580649
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary galactosemia.
    Demirbas D; Coelho AI; Rubio-Gozalbo ME; Berry GT
    Metabolism; 2018 Jun; 83():188-196. PubMed ID: 29409891
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
    Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB
    Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
    Barbouth DS; Velazquez DL; Konopka S; Wilkinson JJ; Carver VH; Elsas LJ
    Pediatr Res; 2007 Dec; 62(6):720-4. PubMed ID: 17957157
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Newborn screening for galactosemia: a 30-year single center experience.
    Porta F; Pagliardini S; Pagliardini V; Ponzone A; Spada M
    World J Pediatr; 2015 May; 11(2):160-4. PubMed ID: 25754754
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.