Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

Blau, N.; Scriver, C.R.; Duran, M.; Blaskovics, M.E.; Gibson, K.M.

Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data.

Details

Published by: Springer

Publication Date: 2014-08-23

Format: Paperback

ISBN-13: 9783642627095

DOI: 10.1007/978-3-642-55878-8

Dimensions: 242.0cm x193.0cm

Pages: 716.0