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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 is a rare, inherited disease that progressively destroys nerve cells in the brain and spinal cord. ...
- ... 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. ...
- National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Lipid storage diseases (also known as lipidoses) are a group ...
- National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Tay-Sachs disease is a rare, inherited metabolic disease ...
- National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... The gangliosidoses are a group of inherited metabolic diseases ...
- 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. ...
(National Institute of Neurological Disorders and Stroke) 