Article
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
Orphanet journal of rare diseases - 1 Dec 2010
Hernandez Monica Arenas, Schulz Reiner, Chaplin Tracy, Young Bryan D, Perrett David, Champion Michael P, Taanman Jan-Willem, Fensom Anthony, Marinaki Anthony M
Abstract excerpt
BACKGROUND: 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...
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