JIMD Reports - Case and Research Reports, 2011/2

From the reviews:

This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. The book does fulfill its purpose, but the audience is geneticists and those specializing in each of these rare disorders. (Christine Yu, Doody s Review Service, March, 2012)