Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways

Hardcover | October 15, 2014

EditorBrendan Lee, Fernando Scaglia

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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 newauthority 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 increasinglyrecognized natural histories of disease.

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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 newauthority on this family of disease. Alongside the s...

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 ur...

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Format:HardcoverDimensions:400 pages, 10 × 7 × 0.98 inPublished:October 15, 2014Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199797587

ISBN - 13:9780199797585

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Table of Contents

SECTION 1. Newborn Screening1. V. Reid Sutton and Brett H. Graham: Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for ConfirmationSECTION 2. Pathways2. Hudson H. Freeze, Erik A. Eklund and Donna M. Krasnewich: Human Glycosylation Disorders: Many faces, many pathways3. Erin M. Coffee and Dean R. Tolan: Gluconeogenesis4. Irini Manoli and Charles Venditti: Branched chain amino acid metabolism5. Areeg El-Gharbawy and Dwight Koeberl: Glycolysis6. Oleg A. Shchelochkov, Sandesh CS Nagamani, Philippe M. Campeau, Ayelet Erez, Brendan H. Lee: Urea Cycle: Ureagenesis and Non-Ureagenic Functions7. Marwan S. Shinawi and Lutfi A. Abu-Elheiga: Fatty Acid Metabolism and Defects8. Ayman W El-Hattab and Fernando Scaglia: Mitochondrial disorders9. Yasemen Eroglu, Jean-Baptiste Roullet, and Robert D. Steiner: Cholesterol, sterols, and isoprenoids10. Luis Umana and William J. Craigen: Disorders of One Carbon Metabolism11. Uta Lichter-Konecki: Neurotransmission and Neurotoxicity (PKU and Dopamine)SECTION 3. Therapeutic Approaches12. Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg: Cell and organ transplantation13. Nicola Brunetti-Pierri: Gene replacement therapy14. Christine Eng and Gregory Pastores: Protein replacement therapy15. Marc Patterson: Chaperone therapy16. Ellen Sidransky: Substrate deprivation theory