A Clinical Guide to Inherited Metabolic Diseases

A Clinical Guide to Inherited Metabolic Diseases

by Joe T. R. Clarke
     
 

ISBN-10: 052148524X

ISBN-13: 9780521485241

Pub. Date: 01/28/1996

Publisher: Cambridge University Press

This clinically organized, user-friendly handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis -- how to determine that it is an inherited metabolic disease, and where to go from here to establish a diagnosis. The well-illustrated text is organized around the clinical presentation of…  See more details below

Overview

This clinically organized, user-friendly handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis -- how to determine that it is an inherited metabolic disease, and where to go from here to establish a diagnosis. The well-illustrated text is organized around the clinical presentation of each disease. Biochemical and metabolic concepts are presented in a clinically relevant context. It functions to complement more traditional textbooks which are organized biochemically. The book serves as an entrance to the discipline, to help non-expert physicians and advanced medical trainees to overcome the intimidation they are accustomed to experiencing when dealing with metabolic problems. This new edition has been expanded to include substantially more on mitochondrial diseases, new imaging techniques, and new techniques for screening and diagnosis.

Product Details

ISBN-13:
9780521485241
Publisher:
Cambridge University Press
Publication date:
01/28/1996
Edition description:
Older Edition
Pages:
280
Product dimensions:
5.98(w) x 8.98(h) x 0.71(d)

Table of Contents

1General principles1
2Necrologic syndrome28
3Metabolic acidosis90
4Hepatic syndrome116
5Cardiac syndromes143
6Storage syndrome and dysmorphism162
7Acute metabolic illness in the newborn198
8Newborn screening228
9Laboratory investigation241
10Treatment297

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