Title |
Phenotypic characteristics of early Wolfram syndrome
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, April 2013
|
DOI | 10.1186/1750-1172-8-64 |
Pubmed ID | |
Authors |
Bess A Marshall, M Alan Permutt, Alexander R Paciorkowski, James Hoekel, Roanne Karzon, Jon Wasson, Amy Viehover, Neil H White, Joshua S Shimony, Linda Manwaring, Paul Austin, Timothy E Hullar, Tamara Hershey, the Washington University Wolfram Study Group |
Abstract |
Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be involved in the regulation of ER stress. This paper reports a cross section of data from the Washington University WFS Research Clinic, a longitudinal study to collect detailed phenotypic data on a group of young subjects in preparation for studies of therapeutic interventions. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 92 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 14 | 15% |
Student > Bachelor | 14 | 15% |
Student > Ph. D. Student | 10 | 11% |
Student > Master | 6 | 7% |
Other | 5 | 5% |
Other | 22 | 24% |
Unknown | 21 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 35 | 38% |
Biochemistry, Genetics and Molecular Biology | 8 | 9% |
Unspecified | 5 | 5% |
Psychology | 4 | 4% |
Neuroscience | 4 | 4% |
Other | 11 | 12% |
Unknown | 25 | 27% |