Title |
The diagnosis of inherited metabolic diseases by microarray gene expression profiling
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, December 2010
|
DOI | 10.1186/1750-1172-5-34 |
Pubmed ID | |
Authors |
Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom, Anthony M Marinaki |
Abstract |
Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray gene expression profiling of cultured fibroblasts to investigate 68 patients with a broad range of suspected metabolic disorders, including defects of lysosomal, mitochondrial, peroxisomal, fatty acid, carbohydrate, amino acid, molybdenum cofactor, and purine and pyrimidine metabolism. We aimed to define gene expression signatures characteristic of defective metabolic pathways. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 33 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 18% |
Researcher | 6 | 18% |
Student > Bachelor | 4 | 12% |
Student > Master | 4 | 12% |
Professor | 3 | 9% |
Other | 6 | 18% |
Unknown | 4 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 10 | 30% |
Biochemistry, Genetics and Molecular Biology | 8 | 24% |
Medicine and Dentistry | 6 | 18% |
Neuroscience | 2 | 6% |
Immunology and Microbiology | 1 | 3% |
Other | 1 | 3% |
Unknown | 5 | 15% |