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.
Ramesh, B. , Susmitha, T. , Leslie, L. and Jayashree, P. (2017). I-Cell Disease with GNPTAB Gene Mutation. Journal of Pediatric Perspectives, 5(12), 6261-6265. doi: 10.22038/ijp.2017.25197.2137
MLA
Ramesh, B. , , Susmitha, T. , , Leslie, L. , and Jayashree, P. . "I-Cell Disease with GNPTAB Gene Mutation", Journal of Pediatric Perspectives, 5, 12, 2017, 6261-6265. doi: 10.22038/ijp.2017.25197.2137
HARVARD
Ramesh, B., Susmitha, T., Leslie, L., Jayashree, P. (2017). 'I-Cell Disease with GNPTAB Gene Mutation', Journal of Pediatric Perspectives, 5(12), pp. 6261-6265. doi: 10.22038/ijp.2017.25197.2137
CHICAGO
B. Ramesh , T. Susmitha , L. Leslie and P. Jayashree, "I-Cell Disease with GNPTAB Gene Mutation," Journal of Pediatric Perspectives, 5 12 (2017): 6261-6265, doi: 10.22038/ijp.2017.25197.2137
VANCOUVER
Ramesh, B., Susmitha, T., Leslie, L., Jayashree, P. I-Cell Disease with GNPTAB Gene Mutation. Journal of Pediatric Perspectives, 2017; 5(12): 6261-6265. doi: 10.22038/ijp.2017.25197.2137
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