Genetic heterogeneity in human neuraminidase deficiency

The Thiobarbituric Acid Assay of Sialic Acids

1959 • 6,482 citations

Ganglioside structures and distribution: Are they localized at the nerve ending?

1978 • 307 citations

Sialidosis: a review of human neuraminidase deficiency.

1979 • 275 citations

Biological Roles of Sialic Acid

1976 • 243 citations

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

1978 • 203 citations

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

1977 • 158 citations

Synthesis of 2'-(4-methylumbelliferyl)-.alpha.-D-N-acetylneuraminic acid and detection of skin fibroblast neuraminidase in normal humans and in sialidosis

1979 • 130 citations

Genetic heterogeneity in GM1-gangliosidosis

1975 • 107 citations

Mucolipidosis I — A sialidosis

1977 • 102 citations

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

1976 • 101 citations

A procedure for the fusion of cells in suspension by means of polyethylene glycol

1977 • 67 citations

ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCY

1974 • 67 citations

A case of neuraminidase deficiency associated with a partial ?-galactosidase defect

1979 • 43 citations

Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities

1978 • 36 citations

Oligosaccharide and Ganglioside Neuraminidase Activities of Mucolipidosis I (Sialidosis) and Mucolipidosis II (I‐Cell Disease) Fibroblasts

1979 • 34 citations

Isolation of human fibroblast heterokaryons with two-colour flow sorting (FACS II)

1979 • 21 citations

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies

1979 • 14 citations