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 *

102 related articles for article (PubMed ID: 5945006)

  • 1. Hereditary galactosaemia measurements of galactose-1-phosphate-uridyltransferase with reference to diagnosis and mode of inheritance.
    Tolstrup N
    Dan Med Bull; 1966 Aug; 13(4):127-30. PubMed ID: 5945006
    [No Abstract]   [Full Text] [Related]  

  • 2. [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]  

  • 3. Galactosaemia in three Rhodesian infants.
    Macfarlane CM; Berger GM; Axton JH
    S Afr Med J; 1979 Feb; 55(8):303-6. PubMed ID: 441883
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Gene frequency of hereditary galactosemia with reference to the Duarte variant].
    Kaloud H; Sitzmann FC
    Z Kinderheilkd; 1972; 113(3):205-14. PubMed ID: 4674437
    [No Abstract]   [Full Text] [Related]  

  • 5. Diagnosis of classical galactosaemia.
    Monk AM; Mitchell AJ; Milligan DW; Holton JB
    Arch Dis Child; 1977 Dec; 52(12):943-6. PubMed ID: 606167
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Classical galactosaemia revisited.
    Bosch AM
    J Inherit Metab Dis; 2006 Aug; 29(4):516-25. PubMed ID: 16838075
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Galactosemia: a hereditary galactose intolerance].
    Sychlowy A
    Pediatr Pol; 1972 Jul; 47(7):901-6. PubMed ID: 4559957
    [No Abstract]   [Full Text] [Related]  

  • 8. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
    Murphy M; McHugh B; Tighe O; Mayne P; O'Neill C; Naughten E; Croke DT
    Eur J Hum Genet; 1999 Jul; 7(5):549-54. PubMed ID: 10439960
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Re-evaluation of a galactosemic family by enzymatic and electrophoretic methods.
    Mayes JS; Howard PN; Seely JR
    J Pediatr; 1973 Sep; 83(3):476-8. PubMed ID: 4579722
    [No Abstract]   [Full Text] [Related]  

  • 10. Galactosaemia in an infant: case report.
    Murila FV
    East Afr Med J; 1999 May; 76(5):281-3. PubMed ID: 10750511
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
    Elsas LJ
    Prenat Diagn; 2001 Apr; 21(4):302-3. PubMed ID: 11288121
    [No Abstract]   [Full Text] [Related]  

  • 12. Galactosaemia - should it be screened in newborns?
    Bosch AM
    Dev Period Med; 2018; 22(3):221-224. PubMed ID: 30281516
    [No Abstract]   [Full Text] [Related]  

  • 13. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
    Berry GT; Nissim I; Lin Z; Mazur AT; Gibson JB; Segal S
    Lancet; 1995 Oct; 346(8982):1073-4. PubMed ID: 7564790
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
    Pesce MA; Bodourian SH
    Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.
    Schweitzer-Krantz S
    Eur J Pediatr; 2003 Dec; 162 Suppl 1():S50-3. PubMed ID: 14614623
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A woman with untreated galactosaemia.
    Lee PJ; Lilburn M; Wendel U; Schadewaldt P
    Lancet; 2003 Aug; 362(9382):446. PubMed ID: 12927432
    [No Abstract]   [Full Text] [Related]  

  • 17. Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
    Gitzelmann R; Poley JR; Prader A
    Helv Paediatr Acta; 1967 Jul; 22(3):252-7. PubMed ID: 5590140
    [No Abstract]   [Full Text] [Related]  

  • 18. [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]  

  • 19. Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family.
    Aughton DJ
    Clin Dysmorphol; 1993 Jan; 2(1):55-61. PubMed ID: 8298739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pitfalls in the diagnosis of galactosemia.
    Donnell GN
    J Pediatr; 1973 Sep; 83(3):515-6. PubMed ID: 4725165
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.