Concepedia

Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: Clinical and biochemical studies

Harvey L. Levy, Stephen J. Sepe, David S. Walton, Vivian E. Shih, G. Hammersen, Sally Houghton, Ernest Beutler

The Journal of Pediatrics · 1978 · 47 citations · 15 references

DOI

Concepts

References

15

Liver Disease in Alpha<sub>1</sub>-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

Tomas Sveger · New England Journal of Medicine · 1976 · 803 citations

, , +16

A simple spot screening test for galactosemia.

Ernest Beutler, Maryellen C. Baluda · PubMed · 1966 · 207 citations

, , +5

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

Ernest Beutler, MaryellenC. Baluda · Clinica Chimica Acta · 1966 · 111 citations

, , +3

The genetics of galactose-1-phosphate uridyl transferase deficiency.

Ernest Beutler, Maryellen C. Baluda, Phillip Sturgeon et al. · PubMed · 1966 · 77 citations

, , +10

Galactosemia Screening of Newborns in Massachusetts

Vivian E. Shih, Harvey L. Levy, Valerie Karolkewicz et al. · New England Journal of Medicine · 1971 · 73 citations

, , +8