Download or read book JIMD Reports, Volume 30 written by Eva Morava and published by Springer. This book was released on 2016-11-01 with total page 108 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.