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Results 1 - 5 of 5 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. 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
  4. 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
  5. 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