Jimd Reports - Volume 12

ISBN-13: 9783319034607 / Angielski / Miękka / 2014 / 134 str.

Johannes Zschocke; K. Michael Gibson; Garry Brown

Opis

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.

Recenzje

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)

Spis treści

Different case studies.

O autorze

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