β-Galactosidase-neuraminidase deficiency in adults: Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α-d-N-acetylneuraminate) substrate

M. Potier, L. Mameli, M. Bélisle et al. · Analytical Biochemistry · 1979 · 824 citations

Life Sciences, Pharmaceutical Analysis, Enzymology +4

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

David A. Wenger, Theodore J. Tarby, Candace Wharton · Biochemical and Biophysical Research Communications · 1978 · 202 citations

Medicine, Neurology, Ophthalmology +7

?-Galactosidase deficiency in juvenile and adult patients

Yoshiyuki Suzuki, Norimasa Nakamura, Kazuko Fukuoka et al. · Human Genetics · 1977 · 102 citations

Life Sciences, Biochemistry, Pediatrics +3

Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

Morton F. Goldberg, Edward Cotlier, Larry G. Fichenscher et al. · PubMed · 1971 · 98 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic heterogeneity in human neuraminidase deficiency

A. T. Hoogeveen, F.W. Verheijen, Alessandra d’Azzo et al. · Nature · 1980 · 79 citations

Life Sciences, Genetics, Molecular Genetics +14