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22. A modified method for the estimation of galactose-1-phosphate. Dobbie JA; Holton JB Ann Clin Biochem; 1986 May; 23 ( Pt 3)():325-8. PubMed ID: 3789640 [TBL] [Abstract][Full Text] [Related]
23. Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate. Jeong JS; Kwon HJ; Lee YM; Yoon HR; Hong SP Clin Chem; 2008 Dec; 54(12):2080-2. PubMed ID: 19042995 [No Abstract] [Full Text] [Related]
24. Galactosemia: when is it a newborn screening emergency? Berry GT Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615 [TBL] [Abstract][Full Text] [Related]
25. Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. Ficicioglu C; Hussa C; Gallagher PR; Thomas N; Yager C Clin Chem; 2010 Jul; 56(7):1177-82. PubMed ID: 20489133 [TBL] [Abstract][Full Text] [Related]
26. A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis. Jeong JS; Kwon HJ; Yoon HR; Lee YM; Choi TY; Hong SP Anal Biochem; 2008 May; 376(2):200-5. PubMed ID: 18358226 [TBL] [Abstract][Full Text] [Related]
27. Galactose-1-phosphate in the pathophysiology of galactosemia. Gitzelmann R Eur J Pediatr; 1995; 154(7 Suppl 2):S45-9. PubMed ID: 7671964 [TBL] [Abstract][Full Text] [Related]
28. Estimation of galactose-I-phosphate in erythrocytes: a rapid and simple enzymatic method. Gitzelmann R Clin Chim Acta; 1969 Nov; 26(2):313-6. PubMed ID: 5352704 [No Abstract] [Full Text] [Related]
29. Galactosaemia: sensitive bioluminescent assays for galactose and red cell galactose-1-phosphate. Wilson RG; Riordan PR; Hartmann PE J Inherit Metab Dis; 1990; 13(3):270-2. PubMed ID: 2122083 [No Abstract] [Full Text] [Related]
30. Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia. Schwarz HP; Zuppinger KA; Zimmerman A; Dauwalder H; Scherz R; Bier DM J Pediatr; 1982 May; 100(5):704-9. PubMed ID: 7069531 [TBL] [Abstract][Full Text] [Related]
31. Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia. TADA K Tohoku J Exp Med; 1962 Oct; 78():1-6. PubMed ID: 13980142 [No Abstract] [Full Text] [Related]
32. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Yuzyuk T; Balakrishnan B; Schwarz EL; De Biase I; Hobert J; Longo N; Mao R; Lai K; Pasquali M Mol Genet Metab; 2018 Nov; 125(3):258-265. PubMed ID: 30172461 [TBL] [Abstract][Full Text] [Related]
38. Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia. ANDERSON EP; ISSELBACHER KJ; KALCKAR HM Science; 1957 Jan; 125(3238):113-4. PubMed ID: 13390971 [No Abstract] [Full Text] [Related]
39. 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]
40. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. Welling L; Boelen A; Derks TG; Schielen PC; de Vries M; Williams M; Wijburg FA; Bosch AM Mol Genet Metab; 2017 Mar; 120(3):223-228. PubMed ID: 28065439 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]