JIMD Reports - Case and Research Reports, 2011/2
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Beschreibung
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.
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
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endocrinology inherited metabolic diseases medical genetics pediatrics metabolic disease
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From the reviews:
“This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. … the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. … The book does fulfill its purpose, but the audience is … geneticists and those specializing in each of these rare disorders.” (Christine Yu, Doody’s Review Service, March, 2012)()