JIMD Reports. Volume 40
Metabolism Metabolism, Inborn errors of Human genetics Medicine Molecular biology Electronic book
Springer 2018EISBN 9783662578803
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.