Publisher of Iranian Journals and Conference Proceedings

Please waite ..
Publisher of Iranian Journals and Conference Proceedings
Login |Register |Help |عضویت کتابخانه ها
Paper
Title

Natural Disease History and Characterization of SUMF۱ Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Year: 1400
COI: JR_INJPM-9-12_013
Language: EnglishView: 78
This Paper With 7 Page And PDF Format Ready To Download

Buy and Download

با استفاده از پرداخت اینترنتی بسیار سریع و ساده می توانید اصل این Paper را که دارای 7 صفحه است به صورت فایل PDF در اختیار داشته باشید.
آدرس ایمیل خود را در کادر زیر وارد نمایید:

Authors

Shokoufeh Khanzadeh - Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran.
meisam babaei - Department of pediatrics,North Khorasan University of Medical Sciences,Bojnurd,Iran
Parvin Imanpour - Clinical Research Development Unit of Children Hospital Tabriz University of Medical Sciences, Tabriz, Iran
Shahram Sadeghvand - Department of Pediatrics, Tabriz University of Medical Sciences, Tabriz, Iran.

Abstract:

Multiple sulfatase deficiency (MSD) is a very rare Lysosomal Storage Disease (LSD) caused by mutations in the SUMF۱ gene. So far, about ۱۴۳ 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.

Keywords:

Paper COI Code

This Paper COI Code is JR_INJPM-9-12_013. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/1354693/

How to Cite to This Paper:

If you want to refer to this Paper in your research work, you can simply use the following phrase in the resources section:
Khanzadeh, Shokoufeh and babaei, meisam and Imanpour, Parvin and Sadeghvand, Shahram,1400,Natural Disease History and Characterization of SUMF۱ Molecular Defects in Multiple Sulfatase Deficiency: a Case Report,https://civilica.com/doc/1354693

Research Info Management

Certificate | Report | من نویسنده این مقاله هستم

اطلاعات استنادی این Paper را به نرم افزارهای مدیریت اطلاعات علمی و استنادی ارسال نمایید و در تحقیقات خود از آن استفاده نمایید.

Scientometrics

The specifications of the publisher center of this Paper are as follows:
Type of center: علوم پزشکی
Paper count: 3,522
In the scientometrics section of CIVILICA, you can see the scientific ranking of the Iranian academic and research centers based on the statistics of indexed articles.

Share this page

More information about COI

COI stands for "CIVILICA Object Identifier". COI is the unique code assigned to articles of Iranian conferences and journals when indexing on the CIVILICA citation database.

The COI is the national code of documents indexed in CIVILICA and is a unique and permanent code. it can always be cited and tracked and assumed as registration confirmation ID.

Support