[Download] "Small Molecule Therapy for Genetic Disease" by Jess G. Thoene # Book PDF Kindle ePub Free

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eBook details

• Title: Small Molecule Therapy for Genetic Disease
• Author : Jess G. Thoene
• Release Date : January 23, 2010
• Genre: Medical,Books,Professional & Technical,
• Pages : * pages
• Size : 2770 KB

Description

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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