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Results 1 - 8 of 8 for Sandhoff disease
  1. 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 ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  2. HEXB gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Leukodystrophies/Specifics ... Leukodystrophies ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. 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. ...
    https://medlineplus.gov/taysachsdisease.html - Health Topics
  5. 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. ...
    https://medlineplus.gov/degenerativenervediseases.html - Health Topics
  6. HEXA gene 
    ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  7. Farber lipogranulomatosis 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis - Genetics
  8. GM2 activator deficiency 
    ... Imataka G, Eguchi M, Furukawa T, Schepers U, Sandhoff K. GM2 gangliosidosis AB variant: clinical and biochemical ... Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K. Molecular analysis of a GM2-activator deficiency ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics