Back to search

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

Data up to Jan 2025

Published1972
Citations20
References29

Total Citations Per Year

Abstract

References (29)

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

A SIMPLE METHOD FOR THE ISOLATION AND PURIFICATION OF TOTAL LIPIDES FROM ANIMAL TISSUES

1957 • 63,238 citations

Phosphorus Assay in Column Chromatography

1959 • 12,895 citations

Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids

1961 • 1,909 citations

CHROMATOGRAPHlC SEPARATION OF HUMAN BRAIN GANGLIOSIDES*

1963 • 1,644 citations

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

1969 • 707 citations

Quantitative determination of the neutral glycosyl ceramides in human blood

1967 • 662 citations

N-Acetyl-β-glucosaminidases in human spleen

1968 • 523 citations

A colorimetric method for the determination of N-acetylglucosamine and N-acetylchrondrosamine

1934 • 460 citations

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

1968 • 329 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

Cellular blood-group substances. I. Isolation and chemical composition of blood-group ABH and Leb isoantigens of sphingoglycolipid nature

1968 • 208 citations

Serum cholesterol measurement based on ethanol extraction and ferric chloride-sulfuric acid

1968 • 159 citations

Thin-layer chromatographic studies of human brain gangliosides

1966 • 109 citations

Juvenile G M2 ‐gangliosidosis

1970 • 100 citations

G M2 ‐gangliosidosis with total hexosaminidase deficiency

1971 • 93 citations

Tay‐Sachs' disease with visceral involvement and its relationship to Niemann‐Pick's disease

1959 • 87 citations

The hydrolysis of Tay‐Sachs ganglioside (TSG) by human N‐acetyl‐β‐D‐hexosaminidase A

1970 • 65 citations

[62] Preparation of gangliosides

1969 • 63 citations

Tay‐sachs disease and related disorders: Fractionation of brain N‐acetyl‐β‐hexosaminidase on DEAE‐cellulose

1970 • 63 citations

Properties of a Particle-bound Enzyme from Rat Intestine that Cleaves Sialic Acid from Tay-Sachs Ganglioside

1971 • 55 citations

Juvenile GM2 Gangliosidosis

1971 • 49 citations

GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts

1970 • 47 citations

FIVE GANGLIOSIDOSES

1969 • 46 citations

Metachromatic Leukodystrophy (MLD)

1971 • 46 citations

Tay-Sachssche Krankheit mit Hexosaminidase-Defekt

1968 • 42 citations

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

1971 • 37 citations

GM2 gangliosidoses: Consideration of the genetic defects

1971 • 8 citations

Cited By (0)

Loading...
Sandhoff’s Disease: Studies on the Enzyme Defect in Homozygotes and Detection of… (1972) – Advances in experimental medicine and biology | Metascience Observatory Explorer