GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Jayesh ShethChaitanya DatarMehul MistriRiddhi BhavsarFrenny ShethKrati Shah

Published in: BMC pediatrics (2016)

Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency.

Keyphrases

young adults
nuclear factor
protein protein
atomic force microscopy
binding protein
immune response
small molecule