نتایج جستجو برای: wolfram syndrome
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The Wolfram syndrome (MIM 222300) is a disease of unknown origin consisting of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Here we report on a generalized deficiency of the mitochondrial respiratory enzyme activities in skeletal muscle and lymphocyte homogenate of a girl suffering from the Wolfram syndrome. In addition, we provide evidence for a 7.6-kilobase pair heterop...
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, classic phenotype composed of optic atrophy, diabetes mellitus type 1, insipidus, and deafness. syndrome, however, phenotypically heterogenous with variable clinical manifestations age onset. We describe four cases genetically confirmed presentations, including acute-on-chronic...
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalenc...
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
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