Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.

A Method for Determining the Sedimentation Behavior of Enzymes: Application to Protein Mixtures

1961 • 5,561 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1980 • 809 citations

Generalized Gangliosidosis: Beta-Galactosidase Deficiency

1968 • 425 citations

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1982 • 364 citations

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

1978 • 203 citations

The relation between human lysosomal beta-galactosidase and its protective protein.

1983 • 135 citations

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.

1982 • 113 citations

Genetic heterogeneity in GM1-gangliosidosis

1975 • 107 citations

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency

1976 • 106 citations

?-Galactosidase deficiency in juvenile and adult patients

1977 • 104 citations

Biosynthesis of two lysosomal enzymes in macrophages. Evidence for a precursor of beta-galactosidase.

1979 • 101 citations

Purification of acid β-galactosidase and acid neuraminidase from bovine testis: Evidence for an enzyme complex

1982 • 94 citations

Molecular genetics of GM1 beta-galactosidase.

1975 • 77 citations

Enhanced Breakdown of Arylsulfatase A in Multiple Sulfatase Deficiency

1982 • 76 citations

Molecular genetics of GM1β-galactosidase

1975 • 72 citations

Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis

1981 • 66 citations

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

1980 • 63 citations

Adult Gmi gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm1 gangliosidosis

1980 • 59 citations

Turnover of β-galactosidase in fibroblasts from patients with genetically different types of β-galactosidase deficiency

1981 • 46 citations

Biosynthesis of acid α‐glucosidase in late‐onset forms of glycogenosis type II (Pompe's disease)

1982 • 44 citations

Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblasts

1981 • 39 citations

Morquio disease, type B: Activation of GM1-β-galactosidase by GM1-activator protein

1982 • 37 citations

Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis.

1974 • 33 citations

Adult forms of glycogenosis type II

1982 • 31 citations

Adult type GMl-gangliosidosis: A complementation study on somatic cell hybrids

1979 • 17 citations

Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.

1977 • 17 citations

The genetic defect in the various types of human β-galactosidase deficiency

1980 • 13 citations