JIMD Reports - Volume 12

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.

Unique collection of case and research reports on rare metabolic disorders Contains unusual or previously unrecorded features relevant to metabolic disorders All contributions rigorously peer-reviewed Includes supplementary material: sn.pub/extras

Autorentext
Johannes Zschocke ist am Institut für Humangenetik in Heidelberg für die Klinische Genetik verantwortlich.

Inhalt
Different case studies.