Dr. Filiano published a textbook called “Simplified Diagnosis of Neurometabolic Disease.” Its format is an “at-a-glance book of lists”. It contains brief paragraphs that explain subcategories of neurometabolic disorders, followed by efficient tables and lists that compare and contrast symptoms, signs, and marker lab tests of related disorders; lists of differential diagnoses; simple diagnostic algorithms; and a few key metabolic pathways. He has recently updated these materials, which are currently in Word Document format. Our goal is to transform the book into a searchable web application and diagnostic tool.
Partner: Dr. Filiano, DHMC