Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomar

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to h

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detail

In the past decade there has been a major sea change in the way disease is diagnosed and investigated due to the advent of high throughput technologies, such as