Concepedia

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

Makoto Suzuki, Carol West, Ernest Beutler

Human Genetics · 2001 · 81 citations · 24 references

DOI

Concepts

References

24

The Human Nramp2 Gene: Characterization of the Gene Structure, Alternative Splicing, Promoter Region and Polymorphisms

Pauline L. Lee, Terri Gelbart, Carol West et al. · Blood Cells Molecules and Diseases · 1998 · 314 citations

, , +8

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

Ernest Beutler, Terri Gelbart · Blood · 2000 · 141 citations

, , +11

A prevalent mutation for galactosemia among black Americans

Kent Lai, Sharon D. Langley, Rani H. Singh et al. · The Journal of Pediatrics · 1996 · 118 citations

, , +9

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

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

, , +10

Newborn screening for galactosemia and other galactose metabolic defects

Harvey L. Levy, G. Hammersen · The Journal of Pediatrics · 1978 · 100 citations

, , +11