Magnetic resonance spectroscopy in niemann-pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 425 citations · Full text

Life Sciences, Biochemistry, Pathobiology +15

Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain.

Marjo S. van der Knaap, Jeroen van der Grond, Peter C. van Rijen et al. · Radiology · 1990 · 311 citations

Life Sciences, Biochemistry, Neuroscience +12

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

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

Life Sciences, Neurology, Neuroscience +10