نتایج جستجو برای: wolfram syndrome

تعداد نتایج: 623455  

2016
Mami Fukuma Daisuke Ariyasu Megumi Hatano Hiroko Yagi Yukihiro Hasegawa

Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Genetic analysis has demonstrated mutations of the WOLFRAMIN gene (WFS1) in patients with this syndrome (1), which may be complicated by other conditions, among them urological disorders (UDs). According to one study, UDs were ...

Journal: :Journal of Evidence Based Medicine and Healthcare 2018

Journal: :CHRISMED Journal of Health and Research 2016

Journal: :AACE clinical case reports 2023

Background/ObjectiveWolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of glycemic levels due DM.Case ReportWe present case siblings diagnosed Wolfram 1, they presented typi...

2015
Xuli Qian Luyang Qin Guangqian Xing Xin Cao

Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein. To date, approximately 230 mutations in WFS1 have been confirmed, in which nonsynonymous single nucleotide polymorphisms (nsSNPs) are the most c...

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