Concepedia

Galactosemia Screening of Newborns in Massachusetts

Vivian E. Shih, Harvey L. Levy, Valerie Karolkewicz, Sally Houghton, Mary L. Efron, Kurt J. Isselbacher, Ernest Beutler, Robert A. MacCready

New England Journal of Medicine · 1971 · 73 citations · 16 references

DOI

Concepts

Abstract

Abstract A total of 374,341 newborn infants in Massachusetts were screened for galactosemia. Of the 177,882 infants tested by bacterial metabolite inhibition assay from March, 1964, to December, 19...

References

16

A simple spot screening test for galactosemia.

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

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A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism

Mary L. Efron, Dean M. Young, Hugo W. Moser et al. · New England Journal of Medicine · 1964 · 187 citations

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Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31

R Gitzelmann · Pediatric Research · 1967 · 166 citations · Full text

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

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

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

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

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