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Results 1 - 4 of 4 for gangliosidosis
Did you mean gangliosidoses?
  1. GLB1 gene 
    ... GLB1 gene have been found to cause GM1 gangliosidosis. The signs and symptoms of this condition primarily ... protein.The GLB1 gene variants that cause GM1 gangliosidosis produce versions of β-galactosidase that are not ...
    https://medlineplus.gov/genetics/gene/glb1 - Genetics
  2. GM2A gene 
    ... people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is a rare inherited disorder ... DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...
    https://medlineplus.gov/genetics/gene/gm2a - Genetics
  3. HEXB gene 
    ... mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clin Neurol Neurosurg. 2018 Apr;167:43-53. ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  4. HEXA gene 
    ... H, Doi H. Structural basis of the GM2 gangliosidosis B variant. J Hum Genet. 2003;48(11): ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics