Louis J. Elsas

Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

Douglas C. Wallace, Gurparkash Singh, Marie T. Lott et al. · Science · 1988 · 2.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man.

WL Krause, Margaret Halminski, L McDonald et al. · Journal of Clinical Investigation · 1985 · 194 citations · Full text

Life Sciences, Neuroscience, Pharmacology +15

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon et al. · Journal of Inherited Metabolic Disease · 2011 · 186 citations · Full text

Life Sciences, Biology, Genetics +6

US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

Kenneth A. Pass, Peter A. Lane, Paul M. Fernhoff et al. · The Journal of Pediatrics · 2000 · 159 citations

Medicine, Genetics, Pediatrics +16

The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach et al. · Genomics · 1992 · 138 citations

Life Sciences, Biochemistry, Molecular Biology +8