Inherited Metabolic Diseases

by Georg F. Hoffmann, William L. Nyhan, Johannes Zschocke

This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of therapy. Numerous tables and figures provide rapid access to individual items aiding in diagnostic and therapeutic decisions. This valuable resource is a useful tool for pediatricians, internists, neurologists, and clinical geneticists.

435 pages, Paperback

First published September 25, 2001

Reviews

[Becca · Rating 5 out of 5]

I love this book -- a very concise and well-organized reference to biochemical genetics that is simple enough and focused enough on core principles to be of use to the general pediatrician, but also contains enough detail to be useful for specialists.