Inborn Errors of Metabolism
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portes grátis
Inborn Errors of Metabolism
From Neonatal Screening to Metabolic Pathways
Scaglia, Fernando; Lee, Brendan
Oxford University Press Inc
11/2014
384
Dura
Inglês
9780199797585
15 a 20 dias
856
Descrição não disponível.
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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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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