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3. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. Benson PF; Brandt NJ; Christensen E; Fensom AH Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903 [TBL] [Abstract][Full Text] [Related]
4. Development of a protocol for newborn screening for disorders of the galactose metabolic pathway. Bowling FG; Brown AR J Inherit Metab Dis; 1986; 9(1):99-104. PubMed ID: 3014213 [TBL] [Abstract][Full Text] [Related]
5. [Gene frequencies of both forms of galactosaemia in the western Hungarian province of Vas (author's transl)]. Sitzmann FC; Istvan L; Teubl I; Kaloud H; Cholnoky P Wien Klin Wochenschr; 1978 Jan; 90(1):16-20. PubMed ID: 204112 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. GALT Deficiency Galactosemia. Anderson S MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423 [TBL] [Abstract][Full Text] [Related]
8. Clinical and laboratory approach for the diagnosis of galactosaemia in Africa. van den Berg IC; Ubbink JB; Bissbort S; Vermaak WJ East Afr Med J; 1993 Apr; 70(4 Suppl):26-30. PubMed ID: 8223305 [TBL] [Abstract][Full Text] [Related]
13. The molecular basis of transferase galactosaemia in South African negroids. Manga N; Jenkins T; Jackson H; Whittaker DA; Lane AB J Inherit Metab Dis; 1999 Feb; 22(1):37-42. PubMed ID: 10070616 [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. [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]
16. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. Henderson H; Leisegang F; Brown R; Eley B BMC Pediatr; 2002 Sep; 2():7. PubMed ID: 12350230 [TBL] [Abstract][Full Text] [Related]
18. Leukocytes as a diagnostic tool for classical galactosaemia. van der Klei-van Moorsel JM; Brockstedt M; Samsom JF; Jakobs C; Wanders RJ J Inherit Metab Dis; 1991; 14(3):382-4. PubMed ID: 1770798 [No Abstract] [Full Text] [Related]
19. Enzymes of galactose metabolism in human hair roots. de Bruyn CH; Raymakers C; Wensing A; Oei TL; Hösli P Br J Dermatol; 1977 Nov; 97(5):487-95. PubMed ID: 22342 [TBL] [Abstract][Full Text] [Related]
20. Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. Zekanowski C; Nowacka M; Radomyska B; Cabalska B J Med Screen; 2001; 8(3):132-6. PubMed ID: 11678552 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]