BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

356 related articles for article (PubMed ID: 25920691)

  • 1. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
    Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
    Clin Chim Acta; 2015 Jun; 446():171-4. PubMed ID: 25920691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A founder noncoding GALT variant interfering with splicing causes galactosemia.
    Latchman K; Brown J; Sineni CJ; Ragin-Dames L; Guo S; Huang J; Thorson W; Hacker S; Barbouth D; Tekin M; Bademci G
    J Inherit Metab Dis; 2020 Nov; 43(6):1199-1204. PubMed ID: 32748411
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
    Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS
    J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
    Balakrishnan B; An D; Nguyen V; DeAntonis C; Martini PGV; Lai K
    Mol Ther; 2020 Jan; 28(1):304-312. PubMed ID: 31604675
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
    De Lucca M; Barba C; Casique L
    Clin Chim Acta; 2017 Jul; 470():20-23. PubMed ID: 28450132
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
    Rasmussen SA; Daenzer JMI; MacWilliams JA; Head ST; Williams MB; Geurts AM; Schroeder JP; Weinshenker D; Fridovich-Keil JL
    J Inherit Metab Dis; 2020 May; 43(3):518-528. PubMed ID: 31845342
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
    Yuzyuk T; Balakrishnan B; Schwarz EL; De Biase I; Hobert J; Longo N; Mao R; Lai K; Pasquali M
    Mol Genet Metab; 2018 Nov; 125(3):258-265. PubMed ID: 30172461
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A yeast expression system for human galactose-1-phosphate uridylyltransferase.
    Fridovich-Keil JL; Jinks-Robertson S
    Proc Natl Acad Sci U S A; 1993 Jan; 90(2):398-402. PubMed ID: 8421669
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
    Stettner NM; Cutler DJ; Fridovich-Keil JL
    Mol Genet Metab; 2023 Apr; 138(4):107542. PubMed ID: 36848716
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
    Ohlsson A; Hunt M; Wedell A; von Döbeln U
    J Inherit Metab Dis; 2019 Sep; 42(5):1008-1018. PubMed ID: 31194895
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
    Welsink-Karssies MM; van Weeghel M; Hollak CEM; Elfrink HL; Janssen MCH; Lai K; Langendonk JG; Oussoren E; Ruiter JPN; Treacy EP; de Vries M; Ferdinandusse S; Bosch AM
    Mol Genet Metab; 2020 Mar; 129(3):171-176. PubMed ID: 31954591
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
    Grama A; Blaga L; Nicolescu A; Deleanu C; Militaru M; Căinap SS; Pop I; Tita G; Sîrbe C; Fufezan O; Vințan MA; Vulturar R; Pop TL
    Medicina (Kaunas); 2019 Apr; 55(4):. PubMed ID: 30987402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
    Item C; Hagerty BP; Mühl A; Greber-Platzer S; Stöckler-Ipsiroglu S; Strobl W
    Pediatr Res; 2002 Apr; 51(4):511-6. PubMed ID: 11919338
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The natural history of classic galactosemia: lessons from the GalNet registry.
    Rubio-Gozalbo ME; Haskovic M; Bosch AM; Burnyte B; Coelho AI; Cassiman D; Couce ML; Dawson C; Demirbas D; Derks T; Eyskens F; Forga MT; Grunewald S; Häberle J; Hochuli M; Hubert A; Huidekoper HH; Janeiro P; Kotzka J; Knerr I; Labrune P; Landau YE; Langendonk JG; Möslinger D; Müller-Wieland D; Murphy E; Õunap K; Ramadza D; Rivera IA; Scholl-Buergi S; Stepien KM; Thijs A; Tran C; Vara R; Visser G; Vos R; de Vries M; Waisbren SE; Welsink-Karssies MM; Wortmann SB; Gautschi M; Treacy EP; Berry GT
    Orphanet J Rare Dis; 2019 Apr; 14(1):86. PubMed ID: 31029175
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.
    Ko DH; Chang HE; Song SH; Park KU; Kim JQ; Kim MC; Song YH; Hong YH; Lee DH; Song J
    Clin Chim Acta; 2010 Oct; 411(19-20):1506-10. PubMed ID: 20547145
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
    Daenzer JM; Jumbo-Lucioni PP; Hopson ML; Garza KR; Ryan EL; Fridovich-Keil JL
    Dis Model Mech; 2016 Nov; 9(11):1375-1382. PubMed ID: 27562100
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.