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 conditi...

Full description

Bibliographic Details

Other Authors:	Blau, Nenad (Editor), Duran, Marinus (Editor), Blaskovics, Milan E. (Editor), Gibson, K. Michael (Editor)
Format:	Electronic eBook
Language:	English
Published:	Berlin, Heidelberg Springer Berlin Heidelberg 2003
Edition:	Second Edition
Subjects:	Biochemistry, general Laboratory Medicine General Practice / Family Medicine Pediatrics Biochemistry Medical laboratories Family medicine Labormedizin Stoffwechselkrankheit Aufsatzsammlung
Online Access:	UBR01 Volltext
Summary:	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. The book includes a CD-ROM with search function
Physical Description:	1 Online-Ressource (XXXVII, 716 p)
ISBN:	9783642558788
DOI:	10.1007/978-3-642-55878-8