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Small Molecule Therapy for Genetic Disease

$112.00

Marlene E. Haffner, Tan Nguyen, Stephen C. Groft, Juan J. L. Lertora, Konstantina M. Vanevski, Barry Wolf, Kirit Pindolia, Hans C. Andersson, Barbara K. Burton, Susan C. Winter, Brian Schreiber, Neil R. M. Buist, Jess G. Thoene, William A. Gahl, Wendy J. Introne, Kevin O'Brien, Gregory M. Enns, James A. Shayman, Harvey L. Levy, Amy Lawson-Yuen, George J. Brewer, Stephen G. Kaler
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  • Date Published: August 2010
  • availability: Available
  • format: Hardback
  • isbn: 9780521517812

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About the Authors
  • 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.

    • First book in 15 years which concentrates on state of the art therapy for metabolic disorders
    • Contains section on the FDA of orphan products written by Dr Marlene Haffner, the second director of the FDA Office
    • Contains detailed section on the operations of the National Institutes of Health Office of Rare Diseases written by the director, Stephen Groft
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    Product details

    • Date Published: August 2010
    • format: Hardback
    • isbn: 9780521517812
    • length: 238 pages
    • dimensions: 261 x 183 x 16 mm
    • weight: 0.67kg
    • contains: 31 b/w illus. 18 tables
    • availability: Available
  • Table of Contents

    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.

  • Editor

    Jess G. Thoene, University of Michigan, Ann Arbor
    Dr Jess G. Thoene is currently Director of the Biochemical Genetics Laboratory in the Division of Pediatric Genetics at the University of Michigan in Ann Arbor and an Active Emeritus Professor of Pediatrics. He has held positions in numerous organizations, including Director of the Hayward Center for Human Genetics at Tulane University Health Sciences Center; Fellow and Medical Director of the Joseph P. Kennedy, Jr Foundation; member of the Board of Directors of Copley Pharmaceuticals; and Chairman of the Board of Directors of the National Organization for Rare Disorders. He has authored numerous articles on inborn errors of metabolism, holds three U.S. patents, and is certified in pediatrics and clinical biochemical genetics.

    Contributors

    Marlene E. Haffner, Tan Nguyen, Stephen C. Groft, Juan J. L. Lertora, Konstantina M. Vanevski, Barry Wolf, Kirit Pindolia, Hans C. Andersson, Barbara K. Burton, Susan C. Winter, Brian Schreiber, Neil R. M. Buist, Jess G. Thoene, William A. Gahl, Wendy J. Introne, Kevin O'Brien, Gregory M. Enns, James A. Shayman, Harvey L. Levy, Amy Lawson-Yuen, George J. Brewer, Stephen G. Kaler

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