Chemical Probes in Biology: Science at the Interface of Chemistry, Biology and Medicine - Couverture souple
Synopsis
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.
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