I-Cell Disease with GNPTAB Gene Mutation

Ramesh, Bhat.Y and Susmitha, Tangirala and Leslie, Lewis and Jayashree, Purkayastha (2017) I-Cell Disease with GNPTAB Gene Mutation. International Journal of Pediatrics, 5 (12). pp. 6261-6265.

IJP_Volume 5_Issue 12_Pages 6261-6265.pdf

Download (430kB) | Preview
Official URL: http://ijp.mums.ac.ir/article_9442.html


I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 09 Dec 2017 14:38
Last Modified: 09 Dec 2017 14:38
URI: http://eprints.mums.ac.ir/id/eprint/8668

Actions (login required)

View Item View Item