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

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

By: Brendan Lee (editor), Fernando Scaglia (editor)Hardback

1 - 2 weeks availability

Description

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.

Create a review

About 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.

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 Venditti ; Chapter 5. Glycolysis ; Areeg El-Gharbawy and Dwight Koeberl ; Chapter 6. Urea Cycle: Ureagenesis and Non-Ureagenic Functions ; Oleg A. Shchelochkov, Sandesh CS Nagamani, Philippe M. Campeau, Ayelet Erez, 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 Umana 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 ; Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg ; Chapter 13. Gene replacement therapy ; Nicola Brunetti-Pierri ; Chapter 14. Protein replacement therapy ; Christine Eng & Gregory Pastores ; Chapter 15. Chaperone therapy ; Marc Patterson ; Chapter 16. Substrate deprivation theory ; Ellen Sidransky

Product Details

  • publication date: 20/11/2014
  • ISBN13: 9780199797585
  • Format: Hardback
  • Number Of Pages: 384
  • ID: 9780199797585
  • weight: 856
  • ISBN10: 0199797587

Delivery Information

  • Saver Delivery: Yes
  • 1st Class Delivery: Yes
  • Courier Delivery: Yes
  • Store Delivery: Yes

Prices are for internet purchases only. Prices and availability in WHSmith Stores may vary significantly

Close