Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

John H. Menkes, Peter L. Hurst, John M. Craig · PEDIATRICS · 1954 · 411 citations

Medicine, Neurology, Pediatrics +8

Amino Acid Metabolism and Genetic Variation.

Annals of Internal Medicine · 1968 · 267 citations

Life Sciences, Genetics, Molecular Genetics +14

"Maple Syrup Urine Disease"

Joseph Dancis, Mortimer Levitz, Scott C. Miller et al. · BMJ · 1959 · 224 citations · Full text

Veterinary Medicine, Infectious Diseases, Pathobiology +5

FAMILIAL NEUROPATHY AND PRESSURE PALSIES

A H BECKETT, M ROWLAND, Paul Turner · The Lancet · 1965 · 210 citations

Medicine, Neurology, Neuroscience +7

THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

C. R. Scriver, C Clow, Susan A. MacKenzie et al. · The Lancet · 1971 · 171 citations