Small Molecule Therapy for Genetic Disease

1. FDA and the regulation of small molecules for orphan diseases Marlene Haffner and Tan Nguyen; 2. The office of rare diseases research: serving a coordinating function at the national institutes of health Stephen C. Groft; 3. Introduction to pharmacokinetics and pharmacodynamics Juan J. L. Lertora and Konstantina M. Vanevski; 4. Biotin and biotin-responsive disorders Barry Wolf and Kirit Pindolia; 5. Cobalamin treatment of methylmalonic acidemias Hans C. Andersson; 6. Sapropterin treatment of phenylketonuria Barbara K. Burton; 7. L-carnitine therapy in primary and secondary carnitine deficiency disorders Susan C. Winter, Brian Schreiber and Neil R. M. Buist; 8. Cysteamine treatment of nephropathic cystinosis Jess Thoene; 9. Nitisinone use in hereditary tyrosinemia and alkaptonuria William A. Gahl, Wendy J. Introne and Kevin O'Brien; 10. Alternative waste nitrogen disposal agents for urea cycle disorders Gregory M. Enns; 11. PDMP based glucosylceramide synthesis inhibitors for Gaucher and Fabry disease James A. Shayman; 12. Betaine treatment for the homocystinurias Harvey L. Levy and Amy Lawson-Yuen; 13. Zinc and tetrathiomolybdate for the treatment of Wilson's disease George J. Brewer; 14. Small copper complexes for treatment of ATP7A-related disorders Stephen G. Kaler.