A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1961 · 319 citations

Life Sciences, Genetics, Molecular Genetics +13

A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test.

Elizabeth P. Anderson, Herman Μ. Kalckar, Kiyoshi Kurahashi et al. · PubMed · 1957 · 105 citations

Life Sciences, Biochemistry, Enzymology +10

A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA

Roger K. Bretthauer, R.G. Hansen, George N. Donnell et al. · Proceedings of the National Academy of Sciences · 1959 · 61 citations · Full text

Medicine, Endocrinology, Diabetology +2

THE ENZYMATIC EXPRESSION OF HETEROZYGOSITY IN FAMILIES OF CHILDREN WITH GALACTOSEMIA

George N. Donnell, William R. Bergren, Roger K. Bretthauer et al. · PEDIATRICS · 1960 · 49 citations

Life Sciences, Genetics, Molecular Genetics +17

A NEW METHOD FOR THE DETECTION OF GALACTOXEMIA AND ITS CARRIER STATE.

Ernest Beutler, Maryellen C. Baluda, George N. Donnell · PubMed · 1964 · 49 citations

Medicine, Endocrinology, Biosensors +4