BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

546 related articles for article (PubMed ID: 18428423)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. [Galactosemia].
    Ohtake A; Amemiya S
    Nihon Rinsho; 2006 Sep; Suppl 3():215-9. PubMed ID: 17022534
    [No 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. Two familial cases of high blood galactose of unknown aetiology.
    Brunetti-Pierri N; Opekun AR; Craigen WJ
    J Inherit Metab Dis; 2006 Dec; 29(6):762. PubMed ID: 16988899
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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]  

  • 10. 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]  

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

  • 12. On the screening for inborn errors of galactose metabolism.
    Vaca G; Sànchez-Corona J; Olivares N; Medina C; Ibarra B; Cantú JM
    Ann Genet; 1983; 26(3):191-2. PubMed ID: 6606384
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Perinatal galactose metabolism.
    Kliegman RM; Sparks JW
    J Pediatr; 1985 Dec; 107(6):831-41. PubMed ID: 3906069
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Galactose-1-phosphate uridyltransferase deficiency].
    Okano Y; Isshiki G
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):15-21. PubMed ID: 9589977
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Galactose toxicity in animals.
    Lai K; Elsas LJ; Wierenga KJ
    IUBMB Life; 2009 Nov; 61(11):1063-74. PubMed ID: 19859980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Identification of inborn errors of galactose metabolism in patients with cataracts].
    Vaca-Pacheco G; Medina C; García-Cruz D; Sánchez-Corona J; Chávez-Anaya E; Jaimes C; Hernández-Córdova A
    Arch Invest Med (Mex); 1990; 21(2):127-32. PubMed ID: 2103700
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
    Li Y; Ptolemy AS; Harmonay L; Kellogg M; Berry GT
    Mol Genet Metab; 2011 Jan; 102(1):33-40. PubMed ID: 20863731
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 28.