I-Cell Disease with GNPTAB Gene Mutation
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2017-12-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://ijp.mums.ac.ir/article_9442_a1b3563e0af0359d055caac154307ceb.pdf |