These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 3141714)

  • 1. A patient with severe type of epimerase deficiency galactosaemia.
    Sardharwalla IB; Wraith JE; Bridge C; Fowler B; Roberts SA
    J Inherit Metab Dis; 1988; 11 Suppl 2():249-51. PubMed ID: 3141714
    [No Abstract]   [Full Text] [Related]  

  • 2. Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
    Garibaldi LR; Canini S; Superti-Furga A; Lamedica G; Filocamo M; Marchese N; Borrone C
    J Pediatr; 1983 Dec; 103(6):927-30. PubMed ID: 6549612
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Uridine diphosphate galactose 4-epimerase deficiency.
    Ichiba Y; Namba N; Misumi H
    Am J Dis Child; 1980 Oct; 134(10):995. PubMed ID: 7424864
    [No Abstract]   [Full Text] [Related]  

  • 6. A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia.
    Bowling FG; Fraser DK; Clague AE; Hayes A; Morris DJ
    Med J Aust; 1986 Feb; 144(3):150-1. PubMed ID: 3945203
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [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]  

  • 9. Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program.
    Misumi H; Wada H; Kawakami M; Ninomiya H; Sueishi T; Ichiba Y; Shohmori T
    Clin Chim Acta; 1981 Oct; 116(1):101-5. PubMed ID: 7318169
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Prenatal determination of uridine diphosphate galactose-4-epimerase activity.
    Gillett MG; Holton JB; MacFaul R
    Prenat Diagn; 1983 Jan; 3(1):57-9. PubMed ID: 6844265
    [No Abstract]   [Full Text] [Related]  

  • 12. Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia.
    Kingsley DM; Krieger M; Holton JB
    N Engl J Med; 1986 May; 314(19):1257-8. PubMed ID: 3702926
    [No Abstract]   [Full Text] [Related]  

  • 13. Results of newborn screening for galactose metabolic disorders.
    Inoue B; Hata M; Ichiba Y; Wada H; Misumi H; Mori T
    J Inherit Metab Dis; 1990; 13(1):93-101. PubMed ID: 2109152
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. Uridine diphosphate galactose 4-epimerase deficiency.
    Oyanagi K; Nakata F; Hirano S; Sogawa H; Takayanagi N; Minami R; Tsugawa S; Nakao T; Ichihara N
    Eur J Pediatr; 1981 Feb; 135(3):303-4. PubMed ID: 7227386
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.
    Gitzelmann R; Steinmann B; Mitchell B; Haigis E
    Helv Paediatr Acta; 1977 Apr; 31(6):441-52. PubMed ID: 404274
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generalised uridine diphosphate galactose-4-epimerase deficiency.
    Walter JH; Roberts RE; Besley GT; Wraith JE; Cleary MA; Holton JB; MacFaul R
    Arch Dis Child; 1999 Apr; 80(4):374-6. PubMed ID: 10086948
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. A simple assay for uridine diphosphate galactose 4-epimerase activity.
    Vaca G; Sanchez-Corona J; Olivares N; Medina C; Ibarra B; Cantu JM
    Ann Genet; 1980; 23(2):126-8. PubMed ID: 6967287
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An interference-free two-step enzyme assay with UPLC-tandem mass spectrometric product measurement for the clinical diagnosis of uridine diphosphate galactose-4-epimerase deficiency.
    Chen J; Meyers GA; Bennett MJ
    J Chromatogr B Analyt Technol Biomed Life Sci; 2014 May; 959():5-9. PubMed ID: 24732214
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.