نتایج جستجو برای: wolfram syndrome
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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 ...
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...
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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