JIMD Reports - Case and Research Reports, 2012/4

This volume offers a unique collection of case and research reports on rare metabolic disorders that highlight unusual or previously unrecorded features relevant to the disorder and serve as an important reminder of clinical or biochemical features.

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

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

Contenu
Different case studies.