Blar i Department of Clinical Medicine på emneord "Peroxisomal disorders"
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
(Peer reviewed; Journal article, 2013-01-03)Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...