I-Cell Disease with GNPTAB Gene Mutation
1. I-Cell Disease with GNPTAB Gene Mutation

Bhat.Y Ramesh; Tangirala Susmitha; Lewis Leslie; Purkayastha Jayashree

Volume 5, Issue 12 , December 2017, , Pages 6261-6265

http://dx.doi.org/10.22038/ijp.2017.25197.2137

Abstract
  I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. ...  Read More