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Ramesh, Bhat.Y, Susmitha, Tangirala, Leslie, Lewis, Jayashree, Purkayastha. (1396). I-Cell Disease with GNPTAB Gene Mutation. , 5(12), 6261-6265. doi: 10.22038/ijp.2017.25197.2137
Bhat.Y Ramesh; Tangirala Susmitha; Lewis Leslie; Purkayastha Jayashree. "I-Cell Disease with GNPTAB Gene Mutation". , 5, 12, 1396, 6261-6265. doi: 10.22038/ijp.2017.25197.2137
Ramesh, Bhat.Y, Susmitha, Tangirala, Leslie, Lewis, Jayashree, Purkayastha. (1396). 'I-Cell Disease with GNPTAB Gene Mutation', , 5(12), pp. 6261-6265. doi: 10.22038/ijp.2017.25197.2137
Ramesh, Bhat.Y, Susmitha, Tangirala, Leslie, Lewis, Jayashree, Purkayastha. I-Cell Disease with GNPTAB Gene Mutation. , 1396; 5(12): 6261-6265. doi: 10.22038/ijp.2017.25197.2137

I-Cell Disease with GNPTAB Gene Mutation

Journal of Pediatric Perspectives
مقاله 10، دوره 5، شماره 12 - شماره پیاپی 48، اسفند 2017، صفحه 6261-6265    اصل مقاله (420.36 K)
شناسه دیجیتال (DOI): 10.22038/ijp.2017.25197.2137
نویسندگان
Bhat.Y Ramesh* 1؛ Tangirala Susmitha2؛ Lewis Leslie2؛ Purkayastha Jayashree2
1Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
2Department of Paediatrics, Kasturba Medical College Hospital, Manipal University, Manipal, India.
چکیده
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.
کلیدواژه‌ها
Skeletal anomalies؛ Mucolipidosis؛ Mutation؛ neonate
آمار
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