Saudubray J. Inborn Metabolic Diseases. Diagnosis...7ed 2022

Textbook in PDF format

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
Diagnosis and Treatment: General Principles
Disorders of Energy Metabolism
Small Molecule Disorders
Complex Molecule Disorders and Cellular Trafficking Disorders