Jimd Reports - Case and Research Reports, 2011/2

ISBN-13: 9783642247576 / Angielski / Miękka / 2011 / 123 str.

Society for the Study of Inborn Errors of Metabolism

Opis

This book offers peer-reviewed case studies and short research reports in the area of inherited metabolic disorders. Coverage includes unusual or previously unrecorded relevant features, and reminders of clinical or biochemical aspects of Menedelian disorders.

Recenzje

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)

Blurb

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.