Title |
Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy
|
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Published in |
Journal of Neuroinflammation, October 2011
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DOI | 10.1186/1742-2094-8-144 |
Pubmed ID | |
Authors |
Paul J Orchard, Troy Lund, Wes Miller, Steven M Rothman, Gerald Raymond, David Nascene, Lisa Basso, James Cloyd, Jakub Tolar |
Abstract |
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA). In 35-40% of children with ALD, an acute inflammatory process occurs in the central nervous system (CNS) leading to demyelination that is rapidly progressive, debilitating and ultimately fatal. Allogeneic hematopoietic stem cell transplantation (HSCT) can halt disease progression in cerebral ALD (C-ALD) if performed early. In contrast, for advanced patients the risk of morbidity and mortality is increased with transplantation. To date there is no means of quantitating neuroinflammation in C-ALD, nor is there an accepted measure to determine prognosis for more advanced patients. |
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 % |
---|---|---|
United States | 1 | 2% |
Brazil | 1 | 2% |
Unknown | 48 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 9 | 18% |
Student > Ph. D. Student | 6 | 12% |
Student > Bachelor | 6 | 12% |
Student > Master | 6 | 12% |
Student > Doctoral Student | 3 | 6% |
Other | 8 | 16% |
Unknown | 12 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 12 | 24% |
Agricultural and Biological Sciences | 8 | 16% |
Biochemistry, Genetics and Molecular Biology | 5 | 10% |
Nursing and Health Professions | 3 | 6% |
Neuroscience | 2 | 4% |
Other | 6 | 12% |
Unknown | 14 | 28% |