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3. False-normal assays for galactosemia in a neonate with cataracts. Weinberg DA; Simon JW; Cowger ML Am J Ophthalmol; 1985 Aug; 100(2):342-3. PubMed ID: 4025481 [No Abstract] [Full Text] [Related]
4. 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]
6. [Galactosemia; variability in clinical aspects and problems in the diagnosis]. van Wijk-Hoek JM; de Klerk JB; Cats BP; Gerards LJ; van der Heiden C Ned Tijdschr Geneeskd; 1985 Sep; 129(38):1836-40. PubMed ID: 2997633 [No 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]
9. 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]
10. GALT Deficiency Galactosemia. Anderson S MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423 [TBL] [Abstract][Full Text] [Related]
11. Congenital biliary atresia detected as a result of galactosemia screening by the Beutler method. Sakura N; Mizoguchi N; Ono H; Yamaoka H; Hamakawa M Clin Chim Acta; 2000 Aug; 298(1-2):175-9. PubMed ID: 10876013 [No Abstract] [Full Text] [Related]
12. The use of a radioisotopic method for estimation of galactose-1-phosphate in galactosemia. Bozkowa K; Duchnowska A Biochem Med; 1977 Feb; 17(1):24-30. PubMed ID: 843340 [No Abstract] [Full Text] [Related]
13. 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]
15. Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. Xu YK; Kaufman FR; Donnell GN; Ng WG Clin Chim Acta; 1995 Mar; 235(2):125-36. PubMed ID: 7554267 [TBL] [Abstract][Full Text] [Related]
16. [Late diagnosis of classical galactosemia. An adult with special biochemistry]. Weits-Binnerts JJ; Hordijk R; Smit GP; van der Veer E; Reijngoud DJ; Berger R Tijdschr Kindergeneeskd; 1993 Oct; 61(5):188-90. PubMed ID: 8266315 [TBL] [Abstract][Full Text] [Related]
17. Preliminary results of UDP galactose pyrophosphorylase in the erythrocytes of healthy persons and in patients with galactosaemia. MaĆkowski T; Radomyska B; Zbieg-Sendecka E Mater Med Pol; 1990; 22(3):191-3. PubMed ID: 2132425 [TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of galactosaemia. Ng WG; Donnell GN; Alfi O Lancet; 1977 Jan; 1(8001):43-4. PubMed ID: 63680 [No Abstract] [Full Text] [Related]
19. Significance of the Duarte/classical galactosemia genetic compound. Kelly S J Pediatr; 1979 Jun; 94(6):937-40. PubMed ID: 448540 [No Abstract] [Full Text] [Related]
20. Spontaneous pregnancy in a patient with classical galactosaemia. de Jongh S; Vreken P; IJst L; Wanders RJ; Jakobs C; Bakker HD J Inherit Metab Dis; 1999 Aug; 22(6):754-5. PubMed ID: 10472536 [No Abstract] [Full Text] [Related] [Next] [New Search]