BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 37702899)

  • 1. Classical Hereditary galactosemia: findings in patients and animal models.
    Teixeira LF; Prauchner GRK; Gusso D; Wyse ATS
    Metab Brain Dis; 2024 Jan; 39(1):239-248. PubMed ID: 37702899
    [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. 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]  

  • 4. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
    Haskovic M; Coelho AI; Bierau J; Vanoevelen JM; Steinbusch LKM; Zimmermann LJI; Villamor-Martinez E; Berry GT; Rubio-Gozalbo ME
    J Inherit Metab Dis; 2020 May; 43(3):392-408. PubMed ID: 31808946
    [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. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
    Lin HC; Kirby LT; Ng WG; Reichardt JK
    Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
    [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. Transient developmental delays in infants with Duarte-2 variant galactosemia.
    Waisbren SE; Tran C; Demirbas D; Gubbels CS; Hsiao M; Daesety V; Berry GT
    Mol Genet Metab; 2021; 134(1-2):132-138. PubMed ID: 34391645
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
    Singh R; Thapa BR; Kaur G; Prasad R
    Biochem Genet; 2012 Dec; 50(11-12):871-80. PubMed ID: 22798028
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. 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]  

  • 12. 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]  

  • 13. The molecular biology of galactosemia.
    Elsas LJ; Lai K
    Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
    Garcia DF; Camelo JS; Molfetta GA; Turcato M; Souza CF; Porta G; Steiner CE; Silva WA
    BMC Med Genet; 2016 May; 17(1):39. PubMed ID: 27176039
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
    Schulpis KH; Thodi G; Chatzidaki M; Iakovou K; Molou E; Dotsikas Y; Loukas YL
    J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1119-1120. PubMed ID: 28902631
    [No Abstract]   [Full Text] [Related]  

  • 17. Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.
    Hagen-Lillevik S; Johnson J; Lai K
    J Ovarian Res; 2022 Nov; 15(1):122. PubMed ID: 36414970
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
    Greber-Platzer S; Guldberg P; Scheibenreiter S; Item C; Schuller E; Patel N; Strobl W
    Hum Mutat; 1997; 10(1):49-57. PubMed ID: 9222760
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Classic Galactosemia: Clinical and Computational Characterization of a Novel
    Forte G; Buonadonna AL; Pantaleo A; Fasano C; Capodiferro D; Grossi V; Sanese P; Cariola F; De Marco K; Lepore Signorile M; Manghisi A; Guglielmi AF; Simonetti S; Laforgia N; Disciglio V; Simone C
    Int J Mol Sci; 2023 Dec; 24(24):. PubMed ID: 38139222
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.