A simple sphingomyelinase determination for Niemann‐Pick disease: differential diagnosis of types A, B and C

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Brady Ro, J. N. Kanfer, Michael B. Mock et al. · Proceedings of the National Academy of Sciences · 1966 · 423 citations · Full text

Biochemistry, Excessive Quantities, Medicine +9

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

Peter B. Schneider, Eugene P. Kennedy · Journal of Lipid Research · 1967 · 304 citations · Full text

ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE

Konrad Sandhoff, K. Harzer, Werner Wässle et al. · Journal of Neurochemistry · 1971 · 292 citations

Biochemistry, Variant B, Medicine +10

Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood

John P. Kampine, Roscoe O. Bardy, Julian N. Kanfer et al. · Science · 1967 · 288 citations

Glycobiology, Diagnosis, Pathology +18

THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE*

Allen C. Crocker · Journal of Neurochemistry · 1961 · 260 citations

Neurobiology Of Disease, Neurological Disorder, Neurology +5