MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2013

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A metabolic disorder masquerading as adult-onset focal epilepsy

Beyond the Ion Channel, 21 Aug 2013

Bella Italia. What a strange day. I am on “emergency duty” for the first day of kindergarten for our daughter. Since the…

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