JIMD Reports - Case and Research Reports, Volume 12

Overview

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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Overview

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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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: The Journal of Inherited Metabolic Disorder Reports (JIMD) publishes cases and short research reports in the area of inherited metabolic disorders.
Purpose: It highlights unusual or previously unrecorded features relevant to human disorders in metabolic issues and serves as a reminder of clinical or biochemical features of Mendelian disorders. This is a useful publication that accepts contributions that are peer reviewed in addition to editorial reviews.
Audience: Clearly the information is unique and appropriate for clinicians involved in the care of patients with inherited metabolic disorders. This is a good source of updated information on well-established clinical phenotypes as well newly described disorders. The unique nature of metabolic disorders makes this publication attractive to a selective audience. However, individuals training in metabolic genetics would find it useful to quickly review updates on known disorders.
Features: This volume presents a wide gamut of topics, from propionic acidemia and optic neuropathy to rare disorders such as guanidinoacetate methyltransferase deficiency. There are no special features, but the format is consistent among all contributions.
Assessment: JIMD is unique in its inclusion of clinical reports and short research reports, which makes it very attractive to busy clinicians wishing to publish their unique cases. It is a must-have in all metabolic clinics.
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Product Details

  • ISBN-13: 9783319034607
  • Publisher: Springer International Publishing
  • Publication date: 2/28/2014
  • Series: JIMD Reports Series
  • Edition description: 2014
  • Pages: 134
  • Product dimensions: 8.20 (w) x 10.70 (h) x 0.30 (d)

Table of Contents

Different case studies.
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