Neurometabolic Diagnosis in Clinical Practice

This text enables a rapid diagnosis of neurometabolic disease in patients and provides a guide for initial treatment. It classifies these diseases into easy-to-remember groups and presents key aspects of diagnosis and management through comparative tables.

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A clear, simple text on metabolic diseases is needed to allow quick access to important information and to help busy clinicians and trainees make a rapid diagnosis of a neurometabolic disease in patients, and to provide a guide for initial treatment. First, the book classifies neurometabolic diseases into groups that are easy to remember and understand, even for those who are not expert in biochemistry. Second, it presents key aspects of diagnosis and management through efficient comparative tables. This means that it separates the basic overview text from the details that are kept in tables. This enables the reader to grasp the overview of the field by reading the prose text alone, and save the details found in the tables for an 'at-a-glance' skim when confronted with a search for diagnosis in a new patient. The book is decidedly simplified, in order to bring clarity to the inexperienced. This book makes prudent reference to web resources not mentioned in other available publications.