Overview

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.

Full Product Details

Author:   Brendan Lee (Professor and Chair, Professor and Chair, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA) ,  Fernando Scaglia (Professor, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA)
Publisher:   Oxford University Press Inc
Imprint:   Oxford University Press Inc
Dimensions:   Width: 25.70cm , Height: 2.50cm , Length: 18.00cm
Weight:   0.845kg
ISBN:  

9780199797585

ISBN 10:   0199797587
Pages:   384
Publication Date:   20 November 2014
Audience:   College/higher education ,  Professional and scholarly ,  Postgraduate, Research & Scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   To order  
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Table of Contents

SECTION 1. Newborn Screening Chapter 1. Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation V. Reid Sutton and Brett H. Graham SECTION 2. Pathways Chapter 2. Human Glycosylation Disorders: Many Faces, Many Pathways Hudson H. Freeze, Erik A. Eklund, and Donna M. Krasnewich Chapter 3. Gluconeogenesis Erin M. Coffee and Dean R. Tolan Chapter 4. Branched Chain Amino Acid Metabolism Irini Manoli and Charles P. Venditti Chapter 5. Glycolysis Areeg El-Gharbawy and Dwight Koeberl Chapter 6. Urea Cycle: Ureagenesis and Non-Ureagenic Functions Oleg A. Shchelochkov, Sandesh C.S. Nagamani, Philippe M. Campeau, Ayelet Erez, and Brendan H. Lee Chapter 7. Fatty Acid Metabolism and Defects Marwan S. Shinawi and Lutfi A. Abu-Elheiga Chapter 8. Mitochondrial Disorders Ayman W. El-Hattab and Fernando Scaglia Chapter 9. Cholesterol, Sterols, and Isoprenoids Yasemen Eroglu, Jean-Baptiste Roullet, and Robert D. Steiner Chapter 10. Disorders of One-Carbon Metabolism Luis Umaña and William J. Craigen Chapter 11. Neurotransmission and Neurotoxicity (PKU and Dopamine) Uta Lichter-Konecki SECTION 3. Therapeutic Approaches Chapter 12. Cell and Organ Transplantation for Inborn Errors of Metabolism Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg Chapter 13. Gene Replacement Therapy for Inborn Errors of Metabolism Nicola Brunetti-Pierri Chapter 14. Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders Gregory M. Pastores and Christine M. Eng Chapter 15. Chaperone Therapy for the Lysosomal Storage Disorders Alexander J. Choi, Robert Burnett, Ehud Goldin, Wei Zheng, and Ellen Sidransky Chapter 16. Substrate deprivation theory Marc C. Patterson

Reviews

Very few books can be compared to this one. There are some similar publications, but their goal and focus is more on diagnostics with no description of the natural history of the disorders. It is this consideration of long-term clinical findings and their correlation to metabolic pathways that makes this book unique. That, plus the clarity of presentation makes this a wonderful choice. -- Doody's Health Sciences Review

"""Very few books can be compared to this one. There are some similar publications, but their goal and focus is more on diagnostics with no description of the natural history of the disorders. It is this consideration of long-term clinical findings and their correlation to metabolic pathways that makes this book unique. That, plus the clarity of presentation makes this a wonderful choice. "" -- Doody's Health Sciences 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. Numerous charts, drawings, tables, and other visual elements are provided to assist you in the learning process."" --Hiro Motiram, BizIndiar"

Author Information

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.

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