JIMD Reports - Volume 10

by Johannes Zschocke (Editor), K Michael Gibson (Editor), Garry Brown (Editor), Eva Morava (Editor), Verena Peters (Editor)

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.

Product Details

ISBN-13:	9783642373343
Publisher:	Springer-Verlag New York, LLC
Publication date:	03/12/2013
Series:	JIMD Reports , #10
Sold by:	Barnes & Noble
Format:	eBook
Pages:	123
File size:	3 MB

Table of Contents

Different case studies.

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: JIMD Reports is a periodical publication of case reports and short research articles in the area of inherited metabolic disorders. The format is that of a traditional medical journal with a peer review system.
Purpose: The goal and purpose of the journal is to publish case and short research reports that highlight some unusual or previously unrecorded feature relevant to an inherited metabolic disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. These are worthy goals, and JIMD corrects the frequently unrecognized lack of information on metabolic disorders.
Audience: This is a clinical publication that seeks to reach a specific audience. It is clear that it is of interest to metabolic and biochemical geneticists who wish to keep current. However, it is a helpful tool for general clinical geneticists practicing without the collaboration of a biochemical-metabolic subspecialist.
Features: This volume presents a series of articles on a wide variety of metabolic subjects with unique clinical presentation. In addition, the short research reports cover subjects such as storage disorder novel mutations and cardiac ultrasound findings in infants with mucopolysaccharidosis. These are good examples of the journal interest and scope of issues it covers. The illustrations are high quality and well designed.
Assessment: JIMD is a good, solid clinical journal. The quality of the papers is excellent and extremely useful for clinicians who deal with patients with metabolic disorders.

Doody's Review Service