Small Molecule Therapy for Genetic Disease (eBook, PDF)

Redaktion: Thoene, Jess G.

• Format: PDF

Produktbeschreibung

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

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Produktdetails

• Verlag: Cambridge University Press
• Erscheinungstermin: 23. August 2010
• Englisch
• ISBN-13: 9780511910890
• Artikelnr.: 38215653

Inhaltsangabe

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.