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Small Molecule Therapy for Genetic Disease

Jess G. Thoene
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      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.
      Format: CONTRIBUTORS: Jess G. Thoene EAN: 9780521517812 COUNTRY: United Kingdom PAGES: WEIGHT: 670 g HEIGHT: 261 cm
      PUBLISHED BY: Cambridge University Press DATE PUBLISHED: 2010-08-23 CITY: GENRE: MEDICAL / Pharmacology WIDTH: 183 cm SPINE:

      Book Themes:

      Hereditary diseases and disorders, Pharmacology

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      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.
      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.
      Format: CONTRIBUTORS: Jess G. Thoene EAN: 9780521517812 COUNTRY: United Kingdom PAGES: WEIGHT: 670 g HEIGHT: 261 cm
      PUBLISHED BY: Cambridge University Press DATE PUBLISHED: 2010-08-23 CITY: GENRE: MEDICAL / Pharmacology WIDTH: 183 cm SPINE:

      Book Themes:

      Hereditary diseases and disorders, Pharmacology

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      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.

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