Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways: 64 (Oxford Monographs on Medical Genetics) - Hardcover

Hardcover

ISBN 10: 0199797587 ISBN 13: 9780199797585

Publisher: OUP USA, 2014

Synopsis

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.

About this title

Review:

This is an excellent volume on metabolism in general and inborn errors of metabolism in particular. It provides you the opportunity to understand various metabolic disorders, and the chemical and physiological processes involved in complex diseases. (Hiro Motiram, Bizindia.net)

About the Author:

Brendan Lee, MD, PhD, is Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. His primary research interests include the natural history and molecular characterization of mitochondrial cytopathies, clinical trials for Leigh syndrome, and the study of nitric oxide and glucose metabolism in patients with MELAS syndrome.

About this edition

• Publisher: OUP USA
• Publication date: 2014
• ISBN 10: 0199797587
• ISBN 13: 9780199797585
• Binding: Hardcover
• Number of pages: 384
• Editor: Lee Brendan, Scaglia Fernando