The Enzymological Diagnosis of Galactosaemia

Anderson E. P. Kalckar H. M. Kurahashi K. Isselbacher K. J. A Specific enzymatic assay for the diagnosis of congenital galactosemia I. The consumption test. J. Lab. clin. Med. 50 (1957) 469.

Beutler E. In Biochemical Methods in Red Cell Genetics ( Yunis J. J. , ed.). Academic Press, New York, 1969.

Beutler E. Baluda M. C. Improved method for measuring galactose-1-phosphate uridyltransferase activity of erythrocytes. Clin. chim. Acta 13 (1966a) 369.

Beutler E. Baluda M. C. Biochemical properties of human red cell galactose-1-phosphate uridyltransferase (UDP glucose α–D galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects. J. Lab. clin. Med. 67 (1966b) 947.

Bretthauer R. K. Hansen R. G. Donnell G. Bergren W. R. Procedure for detecting carriers of galactosemia. Proc. nat. Acad. Sci. 45 (1959) 328.

Isselbacher K. J. In Methods of Enzymatic Analysis ( Bergmeyer H. U. , ed.). Academic Press, New York, 1963, p. 863.

Isselbacner K. J. Galactosemia. In Metabolic Basis of Inherited Disease ( Stanbury J. B. Wyngaarden J. B. Fredrickson D. S. , eds.) McGraw-Hill, New York, 1966, p. 178.

Mellman W. J. Tedesco T. A. An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyltransferase. Stabilization of the enzyme by thiol protective agent. J. Lab. clin. Med. 66 (1965) 980.

Nordin J. H. Bretthauer R. K. Hansen R. G. Development and application of a simplified colorimetric method for detecting carriers of galactosemia. Clin. chim. Acta 6 (1961) 578.

Schwartz V. Goldberg L. Komrower G. M. Holzel A. Some disturbances of erythrocyte metabolism in galactosaemia. Biochem. J. 62 (1956) 34.

Spencer N. Hopkinson D. A. Harris H. Phosphoglucomutase polymorphism in man. Nature 204 (1964) 742.

Whitfield A. Personal communication, 1967.