Chemical Probes in Biology Science at the Interface of Chemistry, Biology and Medicine /
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| Corporate Author: | |
| Format: | eBook |
| Language: | English |
| Published: |
New York, NY :
Springer US : Imprint: Springer,
2004.
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| Edition: | 1st ed. 2004. |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/978-1-4419-9062-4 |
Table of Contents:
- 1 Gene Structure, Regulation and Function
- 2 Synthesis, Processing and Assembly
- 3 Molecular and Kinetic Characteristics
- 4 Active Site and Other Essential Residues
- 5 Molecular Pathology of OTC Deficiency
- 6 Animal Models of OTC Deficiency and Their Gene Therapy
- Sparse-fur mutant mouse
- Sparse-furash mutant mouse
- Gene therapy of mutant mice
- 7 Clinical and Laboratory Findings in OTC Deficiency
- OTC deficiency in females
- OTC deficiency in males
- Plasma amino acid levels in OTC deficiency
- Plasma amino acid levels from the literature
- Case series of OTC deficiency from the literature
- Symptoms of OTC deficiency precipitated by valproic acid
- Rett syndrome and hyperammonemia
- 8 Diagnosis and Treatment of OTC Deficiency
- Diagnosis
- Loading tests
- Neuroimaging, EEG and pathology in liver and brain
- Treatment
- Gene replacement therapy
- 9 Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals
- Development of fetal and neonatal OTC and urea cycle enzymes
- References
- Biographical Note.