Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways (Oxford Monographs on Medical Genetics) 1st Edition
by Brendan Lee (Editor), Fernando Scaglia (Editor)
- Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches.
Inborn Errors of Metabolism
- is an expansion on this model, 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 screenings 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.
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