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Small Molecule Therapy for Genetic Disease
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.
Pathophysiology of Lysosomal Transport
The field of lysosomal transport has grown exponentially in the past decade. Research in this previously unknown function of lysosomes has resulted in understanding the metabolic defect in three inborn errors in metabolism: nephropathic cystinosis, cobalamin F-deficient methylmalonic aciduria, and Salla disease. Seventeen transport systems mediating the exodus from lysosomes of amino acids, sugars, nucleosides, phosphate, calcium, cobalamin, and sulfate have been described. Pathophysiology of Lysosomal Transport presents the current status in this field as described by the authors who made the original discoveries. Each chapter examines the pathological consequences resulting from a defect in a particular system. The book also examines the transfer of macromolecules into the lysosomes, describes the analogy between mammalian lysosomes and vacuoles of plants and fungi, and reviews non-mediated transport. A comprehensive chapter on the methodology required to perform lysosomal studies will benefit researchers undertaking investigations in this area.
Regents' Proceedings
None
Small Molecule Therapy for Genetic Disease
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.
FDA Issues
None
Physicians' Guide to Rare Diseases
This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the opportunity for early diagnosis & treatment. Special features include: * A full color atlas of visual clues, cross referenced to disease listings. * Thirteen separate specialty sections with an expert overview to introduce each section. Eminent clinicians from the outstanding research centers in rare diseases give you the current status of research & practical approaches to diagnosis & therapy of the rare diseases in that specialty. * Full reference to more than ...
