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I-Cell Disease with GNPTAB Gene Mutation
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

https://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