Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic tay-sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease.

1972 • 1,407 citations

Handbook of Clinical Neurology, vol 4.

1970 • 984 citations

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1969 • 707 citations

The assay of arylsulphatases A and B in human urine

1959 • 624 citations

[Tay-Sachs disease].

1973 • 390 citations

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

1968 • 329 citations

Tay-Sachs Disease

1970 • 298 citations

ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE

1971 • 292 citations

Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood

1967 • 290 citations

Variation of β‐N‐acetylhexosaminidase‐pattern in Tay‐Sachs disease

1969 • 258 citations

Evidence for the genetic block in metachromatic leucodystrophy (ML)

1965 • 209 citations

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

1968 • 186 citations

The neuropathy of sulfatide lipidosis (metachromatic leukodystrophy)

1967 • 137 citations

G _M2 ‐gangliosidosis with total hexosaminidase deficiency

1971 • 93 citations

[lysosomes and storage disease].

1981 • 70 citations

Ganglioside storage diseases.

1971 • 60 citations

Identification of tay-sachs disease carriers by acrylamide gel electrophoresis

1970 • 54 citations

Heterozygote Detection in Tay-Sachs Disease: A Prototype Community Screening Program for the Prevention of Recessive Genetic Disorders

1972 • 54 citations

THE PATTERNS OF ARYLSULPHATASES A AND B IN HUMAN NORMAL AND METACHROMATIC LEUCODYSTROPHY TISSUES AND THEIR RELATIONSHIP TO THE CEREBROSIDE SULPHATASE ACTIVITY

1973 • 53 citations

Description d'une oligosaccharidosurie accompagnant une gangliosidose gm 2 á déficit total en 1v-acétyl-hexosaminidases

1971 • 37 citations

Late Adult Metachromatic Leukodystrophy

1972 • 33 citations

Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients.

1972 • 32 citations

AGE-DEPENDENT VARIATIONS OF THE HUMAN N-ACETYL-?-D-HEXOSAMINIDASES

1971 • 30 citations

Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy

1970 • 27 citations

Analytische isoelektrische Fraktionierung der N-Acetyl-β-d-hexosaminidasen

1970 • 27 citations

Sandhoff’s Disease: Studies on the Enzyme Defect in Homozygotes and Detection of Heterozygotes

1972 • 20 citations

Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachsschen Erkrankung (Variate O)

1971 • 17 citations