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 *

127 related articles for article (PubMed ID: 6549612)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. [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]  

  • 12. Generalized epimerase deficiency galactosemia.
    Sarkar M; Bose SS; Mondal G; Chatterjee S
    Indian J Pediatr; 2010 Aug; 77(8):909-10. PubMed ID: 20725869
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 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. Galactose increase in an infant whose mother is heterozygous for peripheral uridine diphosphate galactose-4-epimerase deficiency.
    Keller KM; Wirth S; Sewell AC; Shin YS
    J Inherit Metab Dis; 1991; 14(1):114-5. PubMed ID: 1861454
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons.
    Gitzelmann R; Haigis E
    J Inherit Metab Dis; 1978; 1(1):41. PubMed ID: 117236
    [No Abstract]   [Full Text] [Related]  

  • 20. [UDP-galactose-4-epimerase deficiency].
    Okano Y; Isshiki G
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):25-6. PubMed ID: 9589979
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.