Abstract: 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
Publication Year: 2014
Publication Date: 2014-10-01
Language: en
Type: book
Indexed In: ['crossref']
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Cited By Count: 9
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