Improved method for measuring galactose-1-phosphate uridyl transferase activity of erythrocytes

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1961 · 319 citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +7

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

Ernest Beutler, MaryellenC. Baluda, Phillip Sturgeon et al. · The Lancet · 1965 · 118 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +3

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

GALACTOSÆMIA LOCUS AND THE DOWN'S SYNDROME CHROMOSOME

N. J. Brandt, Anders Frøland, Margareta Mikkelsen et al. · The Lancet · 1963 · 77 citations

Down Syndrome, Mendelian Disorder, Cytogenetics +5

Studies on Galactose Oxidation in Down's Syndrome

David Yi‐Yung Hsia, Tohru Inouye, Paul Wong et al. · New England Journal of Medicine · 1964 · 56 citations

Down Syndrome, Congenital Galactosemia, Metabolic Disorder +14