Inborn errors of metabolism : from neonatal screening to metabolic pathways

著者

    • Lee, Brendan H.
    • Scaglia, Fernando

書誌事項

Inborn errors of metabolism : from neonatal screening to metabolic pathways

edited by Brendan Lee, Fernando Scaglia

（Oxford monographs on medical genetics）

Oxford University Press, c2015

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内容説明・目次

内容説明

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.

目次

  • 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

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