BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 2122114)

  • 1. Galactose disorders: an overview.
    Holton JB
    J Inherit Metab Dis; 1990; 13(4):476-86. PubMed ID: 2122114
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
    Garibaldi L; Superti-Furga A; Borrone C
    J Pediatr; 1986 Dec; 109(6):1074-5. PubMed ID: 3783336
    [No Abstract]   [Full Text] [Related]  

  • 5. [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]  

  • 6. 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]  

  • 7. Plasma polyol levels in patients with cataract.
    Jakobs C; Douwes AC; Brockstedt M; Stellaard F; Endres W; Shin YS
    J Inherit Metab Dis; 1990; 13(4):517-22. PubMed ID: 2122118
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 10. Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
    Henderson MJ; Holton JB; MacFaul R
    J Inherit Metab Dis; 1983; 6(1):17-20. PubMed ID: 6408303
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.
    Xu YK; Ng WG; Kaufman FR; Donnell GN
    J Inherit Metab Dis; 1989; 12(4):445-50. PubMed ID: 2516175
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)].
    Brivet M; Moatti N; Lemonnier A
    Ann Biol Clin (Paris); 1979; 37(5):259-70. PubMed ID: 232826
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The occurrence of the Leloir pathway in non-pathogenic mycobacteria.
    Szumiło T
    Acta Microbiol Pol; 1981; 30(4):327-33. PubMed ID: 6179392
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. Enzymatic expression of genetic units of function concerned with galactose metabolism in Escherichia coli.
    SOFFER RL
    J Bacteriol; 1961 Oct; 82(4):471-8. PubMed ID: 13914787
    [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. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
    Holton JB; Gillett MG; MacFaul R; Young R
    Arch Dis Child; 1981 Nov; 56(11):885-7. PubMed ID: 7305435
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. [The diagnosis of galactosemia: screening or clinical diagnosis?].
    Derksen-Lubsen G
    Ned Tijdschr Geneeskd; 1980 Jul; 124(30):1250-6. PubMed ID: 7412896
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.