Skip to search formSkip to main contentSkip to account menu

Sandhoff Disease

Known as: Sandhoff Jatzkewitz disease, GM2 Gangliosidosis, Type II, Hexosaminidase A and B Deficiency Disease 
An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme… 
National Institutes of Health

Related topics

Related topics

15 relations
BETA-N-ACETYLHEXOSAMINIDASEG(M2) GangliosideHexosaminidase AIn Blood

Broader (3)

Cerebral lipidosesEnzyme DeficiencyGangliosidoses

Narrower (1)

Infantile Sandhoff Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center.
2005
2005
Metabolic correction in microglia derived from Sandhoff disease model mice
Sandhoff disease is an autosomal recessive lysosomal storage disease caused by a defect of the β‐subunit gene (HEXB) associated… 
Review
2001
Review
2001
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
Highly Cited
1991
Highly Cited
1991
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
Highly Cited
1984
Highly Cited
1984
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.
1983
1983
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity… 
1978
1978
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease
A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile‐onset, very slowly progressive… 
Highly Cited
1977
Highly Cited
1977
Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O).
The urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O) contains 10--12 N-acetylglucosamine-rich… 
1976
1976
Intercellular exchange of lysosomal enzymes: enzyme assays in single human fibroblasts after co-cultivation.
1974
1974
A New Variant of Sandhoff's Disease
Extract: A 28-month-old Negro male with atypical Sandhoff's disease (GM2 gangliosidosis, type 2) is described. Clinical… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)