I-Cell Disease with GNPTAB Gene Mutation

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

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

Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

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

Download Full-Text

View:

227

Download:

Cites:

Information Journal Paper

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.

Cites

No record.

References

No record.

Cite

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

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops