Neil R.M. Buist

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Robert S. Wildin, Fred Ramsdell, Jane Peake et al. · Nature Genetics · 2001 · 1.9K citations

Medicine, Endocrinology, Pediatrics +17

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

Darrel Waggoner, Neil R.M. Buist, George N. Donnell · Journal of Inherited Metabolic Disease · 1989 · 532 citations

Medicine, Clinical Sciences, Diabetology +4

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel · The Journal of Pediatrics · 1982 · 448 citations

Medicine, Endocrinology, Pediatrics +14

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

Scott M. Eleff, N. G. Kennaway, Neil R.M. Buist et al. · Proceedings of the National Academy of Sciences · 1984 · 274 citations · Full text

Life Sciences, Biochemistry, Physiology +17

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets

Isaiah D. Wexler, S. Hemalatha, J. McConnell et al. · Neurology · 1997 · 269 citations

Life Sciences, Genetics, Pediatrics +16