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1.
Murphy M, McHugh B, Tighe O, et al. Genetic basis of transferase-deficient galactosaemia in Ireland and the pop
ulation history of the Irish Travellers. Eur J Hum Genet 1999; 7:549.
2.
Hirokawa H, Okano Y, Asada M, et al. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction
of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 1999; 7:757.
3.
National Newborn Screening and Genetics Resource Center; 2002 Newborn Screening and Genetic Testing Symp
osium.
4.
Coman DJ, Murray DW, Byrne JC, et al. Galactosemia, a single gene disorder with epigenetic consequences. Pedi
atr Res 2010; 67:286.
5.
BEUTLER E, BALUDA MC, STURGEON P, DAY R. A NEW GENETIC ABNORMALITY RESULTING IN G
ALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. Lancet 1965; 1:353.
6.
Kelley RI, Segal S. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisot
opic assay and high-resolution isoelectric focusing. J Lab Clin Med 1989; 114:152.
7.
Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Metabolic and molecular bases of inherited disease, 8th ed, S
criver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York 2001. p.1553.
8.
Ficicioglu C, Thomas N, Yager C, et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelop
mental assessment in children detected by newborn screening. Mol Genet Metab 2008; 95:206.
9.
Leslie ND, Immerman EB, Flach JE, et al. The human galactose-1-phosphate uridyltransferase gene. Genomics 19
92; 14:474.
10.
Shield JP, Wadsworth EJ, MacDonald A, et al. The relationship of genotype to cognitive outcome in galactosaemi
a. Arch Dis Child 2000; 83:248.
11.
Cleary MA, Heptinstall LE, Wraith JE, Walter JH. Galactosaemia: relationship of IQ to biochemical control and g
enotype. J Inherit Metab Dis 1995; 18:151.
12.
Kaufman FR, Reichardt JK, Ng WG, et al. Correlation of cognitive, neurologic, and ovarian outcome with the Q1
88R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 1994; 125:225.