Newborn screening for galactosemia and other galactose metabolic defects

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

<b>Gas-Liquid Chromatography of Trimethylsilyl Derivatives of Sugars and Related Substances</b>

Charles C. Sweeley, Ronald Bentley, M. Makita et al. · Journal of the American Chemical Society · 1963 · 2.2K citations

Derivative (Chemistry), Chemical Measurement, Engineering +15

The Metabolic Basis of Inherited Disease

Lawrence M. Solomon · Journal of Investigative Dermatology · 1979 · 2.1K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +6

A simple spot screening test for galactosemia.

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

Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31

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

Ocular Disease, Ophthalmology, Hereditary Galactokinase Deficiency +5