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

Generalized Gangliosidosis: Beta-Galactosidase Deficiency

1968 • 425 citations

Advances in Human Genetics

1972 • 146 citations

Differential effect of chloride ions on β-galactosidase isoenzymes: A method for separate assay

1971 • 109 citations

G _M1 ‐gangliosidosis without chondrodystrophy or visceromegaly

1970 • 108 citations

Genetic heterogeneity in GM1-gangliosidosis

1975 • 107 citations

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

1976 • 106 citations

Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme

1969 • 106 citations

Molecular genetics of GM1 beta-galactosidase.

1975 • 77 citations

Tay-Sachs and Sandhoff's disease: Intergenic complementation after somatic cell hybridization

1974 • 75 citations

Molecular genetics of GM1β-galactosidase

1975 • 72 citations

ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCY

1974 • 67 citations

GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.

1974 • 63 citations

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

1974 • 53 citations

Juvenile GM₁ gangliosidosis: Clinical, pathological, chemical and enzymatic studies

1972 • 47 citations

Ganglioside Storage Diseases

1972 • 43 citations

Localized ß-Galactosidase Deficiency

1974 • 42 citations

BETA-GALACTOSIDASE DEFICIENCY IN YOUNG ADULTS

1974 • 40 citations

Macular Cherry-Red Spots and β-Galactosidase Deficiency in an Adult

1977 • 39 citations

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

1975 • 37 citations

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

1978 • 36 citations

Nature of the mutation in adult beta-galactosidase deficient patients.

1977 • 32 citations

Regional localization of aβ-galactosidase locus on human chromosome 22

1977 • 19 citations

THE IN VITRO PRODUCTION OF ANTIBODY BY DELAYED PHASE CORNEAL LIMBAL LYMPHOID FOCI

1963 • 19 citations

Juvenile GM1 gangliosidosis

1979 • 6 citations

Three-GM1-gangliosidonses and a variant of .BETA.-galactosidase deficiency.

1975 • 4 citations

Clinical, Biochemical and Genetic Heterogeneity in Gangliosidoses

1977 • 1 citations