Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The Thiobarbituric Acid Assay of Sialic Acids

Leonard Warren · Journal of Biological Chemistry · 1959 · 6.4K citations · Full text

Agriculture, Biochemistry, Enzymology +10

Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts

Michael Cantz, Jürgen Gehler, Jürgen W. Spranger · Biochemical and Biophysical Research Communications · 1977 · 159 citations

Life Sciences, Biochemistry, Pathology +7

G1 Ganglioside β-Galactosidase A

Anthony G.W. Norden, Linda Tennant, John S. O’Brien · Journal of Biological Chemistry · 1974 · 157 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Mucopolysaccharidosis: Secondarily Induced Abnormal Distribution of Lysosomal Isoenzymes

J. Kint, G. Dacremont, D. Carton et al. · Science · 1973 · 109 citations

Life Sciences, Biochemistry, Pathology +15