JIMD Reports - Case and Research Reports, 2012/4by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
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.
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