نتایج جستجو برای: wolfram syndrome
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Wolfram|Alpha Computational Knowledge Engine software, despite all internet search engines, tries to provide the the best answer for a question or compute an equation in the most correct way based on the current knowledge. Therefore, given the unique characteristic of Wolfram|Alpha and its vast applications, the aim of the present article is to familiarize the biomedical scientists with...
BACKGROUND Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON)...
Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in l...
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