Segregation within a family of two mutant alleles for hexosaminidase A

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

1973 • 97 citations

Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells

1973 • 69 citations

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

1973 • 65 citations

Ganglioside G_M2 N‐acetyl‐ß‐D‐gafactosaminidase and asialo G_M2 (G_A2) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblasts

1977 • 42 citations

Tay-Sachs disease: high gene frequency in a non-Jewish population.

1975 • 22 citations