BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

572 related articles for article (PubMed ID: 11001796)

  • 1. Molecular basis of disorders of human galactose metabolism: past, present, and future.
    Novelli G; Reichardt JK
    Mol Genet Metab; 2000; 71(1-2):62-5. PubMed ID: 11001796
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
    Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
    Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. The molecular basis of galactosemia - Past, present and future.
    Timson DJ
    Gene; 2016 Sep; 589(2):133-41. PubMed ID: 26143117
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Galactosemia].
    Ohtake A; Amemiya S
    Nihon Rinsho; 2006 Sep; Suppl 3():215-9. PubMed ID: 17022534
    [No Abstract]   [Full Text] [Related]  

  • 7. [Galactosemia].
    Owada M
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):647-51. PubMed ID: 3270877
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
    Petry KG; Reichardt JK
    Trends Genet; 1998 Mar; 14(3):98-102. PubMed ID: 9540406
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Galactose and cataract.
    Stambolian D
    Surv Ophthalmol; 1988; 32(5):333-49. PubMed ID: 3043741
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
    Slepak T; Tang M; Addo F; Lai K
    Mol Genet Metab; 2005 Nov; 86(3):360-71. PubMed ID: 16169270
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Galactosemia].
    Grodzka Z; Zbieg-Sendecka E
    Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Tests for galactose metabolism].
    Ohya N
    Nihon Rinsho; 1997 Mar; 55 Suppl 1():244-7. PubMed ID: 9097598
    [No Abstract]   [Full Text] [Related]  

  • 14. [Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract].
    Heyne K; Shin YS; Schwinger E
    Monatsschr Kinderheilkd; 1988 Dec; 136(12):828-30. PubMed ID: 2853298
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
    Bosch AM; Waterham HR; Bakker HD
    Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.
    Ross KL; Davis CN; Fridovich-Keil JL
    Mol Genet Metab; 2004; 83(1-2):103-16. PubMed ID: 15464425
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
    Bang YL; Nguyen TT; Trinh TT; Kim YJ; Song J; Song YH
    FEBS J; 2009 Apr; 276(7):1952-61. PubMed ID: 19250319
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Epimerase-deficiency galactosemia is not a binary condition.
    Openo KK; Schulz JM; Vargas CA; Orton CS; Epstein MP; Schnur RE; Scaglia F; Berry GT; Gottesman GS; Ficicioglu C; Slonim AE; Schroer RJ; Yu C; Rangel VE; Keenan J; Lamance K; Fridovich-Keil JL
    Am J Hum Genet; 2006 Jan; 78(1):89-102. PubMed ID: 16385452
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure and function of enzymes of the Leloir pathway for galactose metabolism.
    Holden HM; Rayment I; Thoden JB
    J Biol Chem; 2003 Nov; 278(45):43885-8. PubMed ID: 12923184
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 29.