Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

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.

Khanzadeh Shokoufeh; Babaei Meisam; Imanpour Parvin; Sadeghvand Shahram

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

Journal Paper

Paper Information

Journal: Journal of Pediatric Perspectives Year:2021 | Volume:9 | Issue:12 (96) Page(s): 15047-15053

Download Full-Text

View:

Download:

Cites:

Information Journal Paper

Title

Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Author(s)

Khanzadeh Shokoufeh | Babaei Meisam | Imanpour Parvin | Sadeghvand Shahram | Issue Writer Certificate

Keywords

Lysosomal storage disease

Multiple sulfatase deficiency

SUMF1 gene

Abstract

Multiple sulfatase deficiency (MSD) is a very rare Lysosomal storage disease (LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition. The present report shows the genetic and clinical aspects of a patient with MSD in comparison to the previously reported patients.

Cites

No record.

References

Cite

APA: Copy

Khanzadeh, Shokoufeh, Babaei, Meisam, Imanpour, Parvin, & Sadeghvand, Shahram. (2021). Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report. INTERNATIONAL JOURNAL OF PEDIATRICS, 9(12 (96)), 15047-15053. SID. https://sid.ir/paper/995113/en

Vancouver: Copy

Khanzadeh Shokoufeh, Babaei Meisam, Imanpour Parvin, Sadeghvand Shahram. Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2021;9(12 (96)):15047-15053. Available from: https://sid.ir/paper/995113/en

IEEE: Copy

Shokoufeh Khanzadeh, Meisam Babaei, Parvin Imanpour, and Shahram Sadeghvand, “Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 9, no. 12 (96), pp. 15047–15053, 2021, [Online]. Available: https://sid.ir/paper/995113/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops