Inborn Errors of Metabolism
Inborn Errors of Metabolism
From Neonatal Screening to Metabolic Pathways
Contenu
This book is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases - how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.