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Sandhoff disease
- Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal ... infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and severe form and ...
- Sandhoff Disease (National Institute of Neurological Disorders and Stroke)Tay-Sachs Disease/Specifics ... Tay-Sachs Disease ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Sandhoff disease ...
- ... breaks down a fatty substance called GM2 ganglioside. Sandhoff disease is caused by variants (also known as mutations) ... which causes many of the characteristic features of Sandhoff disease.Most of the known variants in the HEXB ...
- Tay-Sachs Disease (National Library of Medicine)Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. ...
- Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke)Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
- Tay-Sachs Disease (National Institute of Neurological Disorders and Stroke)Tay-Sachs Disease/Start Here ... Tay-Sachs Disease ... Tay-Sachs disease is a rare, inherited metabolic disease that mostly affects young children and involves ...
- Gangliosidoses (National Institute of Neurological Disorders and Stroke)Lipid Metabolism Disorders/Specifics ... Lipid Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health
- Degenerative Nerve Diseases (National Library of Medicine)Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
- ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
- ... Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat. 2001 Mar;17(3):199-209. ...