Inborn Metabolic Diseases: Diagnosis and Treatment – Jean-Marie Saudubray

Inborn Metabolic Diseases: Diagnosis and Treatment – Jean-Marie Saudubray Description

Inborn Metabolic Diseases: Diagnosis and Treatment by Jean-Marie Saudubray introduces a clinical and biochemical approach to the diagnosis and therapy of IEM as well as discusses numerous diagnostic criteria for patients of different ages with a focus on neurological manifestations.

The book is divided into three main pathophysiological categories: small molecule disorders, typically diagnosed with metabolic markers; complex molecule disorders, typically diagnosed with molecular techniques;  and last but not least: disorders of energy metabolism, both mitochondrial and non-mitochondrial.