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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