I-Cell Disease with GNPTAB Gene Mutation

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Ramesh Bhat.Y.; Susmitha Tangirala; Leslie Lewis; Jayashree Purkayastha

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Journal Paper

Paper Information

Journal: Journal of Pediatric Perspectives Year:2017 | Volume:5 | Issue:12 (48) Page(s): 6261-6265

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Title

I-Cell Disease with GNPTAB Gene Mutation

Author(s)

Ramesh Bhat.Y. | Susmitha Tangirala | Leslie Lewis | Jayashree Purkayastha | Issue Writer Certificate

Keywords

Skeletal anomalies

Mucolipidosis

Mutation

Neonate

Abstract

Inclusion-cell (I-cell) disease (Mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature 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 Nacetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) gene Mutation.

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APA: Copy

Ramesh, Bhat.Y., Susmitha, Tangirala, Leslie, Lewis, & Jayashree, Purkayastha. (2017). I-Cell Disease with GNPTAB Gene Mutation. INTERNATIONAL JOURNAL OF PEDIATRICS, 5(12 (48)), 6261-6265. SID. https://sid.ir/paper/337494/en

Vancouver: Copy

Ramesh Bhat.Y., Susmitha Tangirala, Leslie Lewis, Jayashree Purkayastha. I-Cell Disease with GNPTAB Gene Mutation. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2017;5(12 (48)):6261-6265. Available from: https://sid.ir/paper/337494/en

IEEE: Copy

Bhat.Y. Ramesh, Tangirala Susmitha, Lewis Leslie, and Purkayastha Jayashree, “I-Cell Disease with GNPTAB Gene Mutation,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 5, no. 12 (48), pp. 6261–6265, 2017, [Online]. Available: https://sid.ir/paper/337494/en

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