Small Molecule Therapy for Genetic Disease
Editat de Jess G. Thoene MDen Limba Engleză Hardback – 22 aug 2010
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Specificații
ISBN-13: 9780521517812
ISBN-10: 0521517818
Pagini: 238
Ilustrații: 31 b/w illus. 18 tables
Dimensiuni: 183 x 261 x 16 mm
Greutate: 0.66 kg
Ediția:New.
Editura: Cambridge University Press
Colecția Cambridge University Press
Locul publicării:New York, United States
ISBN-10: 0521517818
Pagini: 238
Ilustrații: 31 b/w illus. 18 tables
Dimensiuni: 183 x 261 x 16 mm
Greutate: 0.66 kg
Ediția:New.
Editura: Cambridge University Press
Colecția Cambridge University Press
Locul publicării:New York, United States
Cuprins
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.
Descriere
Thoene focuses on innovative and progressive small molecule therapies with potentially life-saving therapeutic responses for metabolic genetic disorders.