JIMD Reports - Volume 12

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.

List of contents

Different case studies.

About the author

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

Summary

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.

Additional text

From the reviews:
“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. … 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.” (Luis F. Escobar, Doody’s Book Reviews, May, 2014)

Report

From the reviews:
"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. ... 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." (Luis F. Escobar, Doody's Book Reviews, May, 2014)

Product details

• Assisted by: Garry Brown (Editor), Garry Brown et al (Editor), K Michael Gibson (Editor), K. Michael Gibson (Editor), Michael Gibson (Editor), K Michael Gibson (Editor), Eva Morava (Editor), Eva Morava-Kozicz (Editor), Verena Peters (Editor), Johannes Zschocke (Editor)
• Publisher: Springer, Berlin
• Languages: English
• Product format: Paperback / Softback
• Released: 25.10.2013
• EAN: 9783319034607
• ISBN: 978-3-31-903460-7
• No. of pages: 134
• Dimensions: 210 mm x 9 mm x 279 mm
• Weight: 385 g
• Illustrations: VI, 134 p. 90 illus., 17 illus. in color.
• Series: JIMD Reports; JIMD Reports
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; B, Medicine, Diseases, Pediatrics, HUMAN PHYSIOLOGY, METABOLISM, PHYSIOLOGY, Human Genetics, Medical Genetics, Paediatric medicine, Metabolic Diseases