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Results 1 - 3 of 3 for GM2 gangliosidosis
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  1. ... in people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is a rare inherited disorder ... Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...
  2. ... Ninomiya H, Doi H. Structural basis of the GM2 gangliosidosis B variant. J Hum Genet. 2003;48(11): ...
  3. ... mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clin Neurol Neurosurg. 2018 Apr;167:43-53. ...