The Resource Small molecule therapy for genetic disease, edited by Jess G. Thoene
Small molecule therapy for genetic disease, edited by Jess G. Thoene
Resource Information
The item Small molecule therapy for genetic disease, edited by Jess G. Thoene represents a specific, individual, material embodiment of a distinct intellectual or artistic creation found in University of Missouri Libraries.This item is available to borrow from 1 library branch.
Resource Information
The item Small molecule therapy for genetic disease, edited by Jess G. Thoene represents a specific, individual, material embodiment of a distinct intellectual or artistic creation found in University of Missouri Libraries.
This item is available to borrow from 1 library branch.
- Summary
- "This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are discrete, often of natural origin, and provide predictable therapeutic responses. As such, they avoid many of the practical difficulties associated with gene and protein therapies. This handbook will enable interested clinician scientists and others to rapidly survey the field, thus ascertaining what has been done and as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. These chapters focus on an introduction to pharmacokinetics and pharmacodynamics, a description of the FDA Office of Orphan Products, and a summary of the operation of the National Institutes of Health Office of Rare Diseases. The remainder of the book is devoted to a review of small molecule therapy for genetic diseases. The book closely analyzes the cofactors used to augment the function of defective enzymes and the compounds that are able to utilize 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"--Provided by publisher
- Language
- eng
- Extent
- xiii, 223 pages, 4 unnumbered pages of plates
- Contents
-
- Infrastructure
- FDA and the Regulation of Small Molecules for Orphan Diseases / Marlene E. Haffner and Tan T. Nguyen
- Office of rare diseases research: serving a coordinating function at the National Institutes of Health / Stephen C. Groft
- Introduction to pharmacokinetics and pharmacodynamics / Juan J. L. Lertora and Konstantina M. Vanevski
- Cofactors
- Biotin and biotin-responsive disorders / Kirit Pindolia and Barry Wolf
- Cobalamin treatment of methylmalonic acidemias Hans C. Andersson
- Sapropterin treatment of phenylketonuria / Barbara K. Burton
- L-carnitine therapy in primary and secondary carnitine deficiency disorders / Susan C. Winter, Brian Schreiber, and Neil R. M. Buist
- Utilization of alternative pathways
- Cysteamine treatment of nephropathic cystinosis Jess G. Thoene
- Nitisinone use in hereditary tyrosinemia and alkaptonuria / Wendy J. Introne, Kevin J. O'Brien, and William A. Gahl
- Alternative waste nitrogen disposal agents for urea cycle disorders / Gregory M. Enns
- PDMP-based glucosylceramide synthesis inhibitors for gaucher and fabry disease / James A. Shayman
- Betaine treatment for the homocystinurias / Amy Lawson-Yuen and Harvey L. Levy
- Metal ion therapy
- Zinc and tetrathiomolybdate for the treatment of Wilson disease / George J. Brewer
- Small copper complexes for treatment of acquired and inherited copper deficiency syndromes / Stephen G. Kaler
- Isbn
- 9780521517812
- Label
- Small molecule therapy for genetic disease
- Title
- Small molecule therapy for genetic disease
- Statement of responsibility
- edited by Jess G. Thoene
- Subject
-
- Genetic Diseases, Inborn -- drug therapy
- Genetic disorders -- Chemotherapy -- Handbooks, manuals, etc
- Metabolism, Inborn errors of -- Chemotherapy -- Handbooks, manuals, etc
- Metabolism, Inborn errors of -- Gene therapy -- Handbooks, manuals, etc
- Orphan Drug Production
- Rare Diseases -- drug therapy
- Small Molecule Libraries -- therapeutic use
- Language
- eng
- Summary
- "This book summarizes the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. These agents are discrete, often of natural origin, and provide predictable therapeutic responses. As such, they avoid many of the practical difficulties associated with gene and protein therapies. This handbook will enable interested clinician scientists and others to rapidly survey the field, thus ascertaining what has been done and as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. These chapters focus on an introduction to pharmacokinetics and pharmacodynamics, a description of the FDA Office of Orphan Products, and a summary of the operation of the National Institutes of Health Office of Rare Diseases. The remainder of the book is devoted to a review of small molecule therapy for genetic diseases. The book closely analyzes the cofactors used to augment the function of defective enzymes and the compounds that are able to utilize 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"--Provided by publisher
- Cataloging source
- DNLM/DLC
- Illustrations
-
- illustrations
- plates
- Index
- index present
- LC call number
- RC627.8
- LC item number
- .S55 2010
- Literary form
- non fiction
- Nature of contents
-
- bibliography
- handbooks
- NLM call number
- QZ 50
- NLM item number
- S635 2010
- http://library.link/vocab/relatedWorkOrContributorName
- Thoene, Jess G
- http://library.link/vocab/subjectName
-
- Metabolism, Inborn errors of
- Metabolism, Inborn errors of
- Genetic disorders
- Genetic Diseases, Inborn
- Orphan Drug Production
- Rare Diseases
- Small Molecule Libraries
- Label
- Small molecule therapy for genetic disease, edited by Jess G. Thoene
- Bibliography note
- Includes bibliographical references and index
- Carrier category
- volume
- Carrier category code
-
- nc
- Carrier MARC source
- rdacarrier
- Content category
- text
- Content type code
-
- txt
- Content type MARC source
- rdacontent
- Contents
- Infrastructure -- FDA and the Regulation of Small Molecules for Orphan Diseases / Marlene E. Haffner and Tan T. Nguyen -- Office of rare diseases research: serving a coordinating function at the National Institutes of Health / Stephen C. Groft -- Introduction to pharmacokinetics and pharmacodynamics / Juan J. L. Lertora and Konstantina M. Vanevski -- Cofactors -- Biotin and biotin-responsive disorders / Kirit Pindolia and Barry Wolf -- Cobalamin treatment of methylmalonic acidemias Hans C. Andersson -- Sapropterin treatment of phenylketonuria / Barbara K. Burton -- L-carnitine therapy in primary and secondary carnitine deficiency disorders / Susan C. Winter, Brian Schreiber, and Neil R. M. Buist -- Utilization of alternative pathways -- Cysteamine treatment of nephropathic cystinosis Jess G. Thoene -- Nitisinone use in hereditary tyrosinemia and alkaptonuria / Wendy J. Introne, Kevin J. O'Brien, and William A. Gahl -- Alternative waste nitrogen disposal agents for urea cycle disorders / Gregory M. Enns -- PDMP-based glucosylceramide synthesis inhibitors for gaucher and fabry disease / James A. Shayman -- Betaine treatment for the homocystinurias / Amy Lawson-Yuen and Harvey L. Levy -- Metal ion therapy -- Zinc and tetrathiomolybdate for the treatment of Wilson disease / George J. Brewer -- Small copper complexes for treatment of acquired and inherited copper deficiency syndromes / Stephen G. Kaler
- Control code
- 502393232
- Dimensions
- 27 cm
- Extent
- xiii, 223 pages, 4 unnumbered pages of plates
- Isbn
- 9780521517812
- Lccn
- 2010002899
- Media category
- unmediated
- Media MARC source
- rdamedia
- Media type code
-
- n
- Other physical details
- illustrations (some color)
- System control number
- (OCoLC)502393232
- Label
- Small molecule therapy for genetic disease, edited by Jess G. Thoene
- Bibliography note
- Includes bibliographical references and index
- Carrier category
- volume
- Carrier category code
-
- nc
- Carrier MARC source
- rdacarrier
- Content category
- text
- Content type code
-
- txt
- Content type MARC source
- rdacontent
- Contents
- Infrastructure -- FDA and the Regulation of Small Molecules for Orphan Diseases / Marlene E. Haffner and Tan T. Nguyen -- Office of rare diseases research: serving a coordinating function at the National Institutes of Health / Stephen C. Groft -- Introduction to pharmacokinetics and pharmacodynamics / Juan J. L. Lertora and Konstantina M. Vanevski -- Cofactors -- Biotin and biotin-responsive disorders / Kirit Pindolia and Barry Wolf -- Cobalamin treatment of methylmalonic acidemias Hans C. Andersson -- Sapropterin treatment of phenylketonuria / Barbara K. Burton -- L-carnitine therapy in primary and secondary carnitine deficiency disorders / Susan C. Winter, Brian Schreiber, and Neil R. M. Buist -- Utilization of alternative pathways -- Cysteamine treatment of nephropathic cystinosis Jess G. Thoene -- Nitisinone use in hereditary tyrosinemia and alkaptonuria / Wendy J. Introne, Kevin J. O'Brien, and William A. Gahl -- Alternative waste nitrogen disposal agents for urea cycle disorders / Gregory M. Enns -- PDMP-based glucosylceramide synthesis inhibitors for gaucher and fabry disease / James A. Shayman -- Betaine treatment for the homocystinurias / Amy Lawson-Yuen and Harvey L. Levy -- Metal ion therapy -- Zinc and tetrathiomolybdate for the treatment of Wilson disease / George J. Brewer -- Small copper complexes for treatment of acquired and inherited copper deficiency syndromes / Stephen G. Kaler
- Control code
- 502393232
- Dimensions
- 27 cm
- Extent
- xiii, 223 pages, 4 unnumbered pages of plates
- Isbn
- 9780521517812
- Lccn
- 2010002899
- Media category
- unmediated
- Media MARC source
- rdamedia
- Media type code
-
- n
- Other physical details
- illustrations (some color)
- System control number
- (OCoLC)502393232
Subject
- Genetic Diseases, Inborn -- drug therapy
- Genetic disorders -- Chemotherapy -- Handbooks, manuals, etc
- Metabolism, Inborn errors of -- Chemotherapy -- Handbooks, manuals, etc
- Metabolism, Inborn errors of -- Gene therapy -- Handbooks, manuals, etc
- Orphan Drug Production
- Rare Diseases -- drug therapy
- Small Molecule Libraries -- therapeutic use
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<div class="citation" vocab="http://schema.org/"><i class="fa fa-external-link-square fa-fw"></i> Data from <span resource="http://link.library.missouri.edu/portal/Small-molecule-therapy-for-genetic-disease/zenUXJS2URg/" typeof="Book http://bibfra.me/vocab/lite/Item"><span property="name http://bibfra.me/vocab/lite/label"><a href="http://link.library.missouri.edu/portal/Small-molecule-therapy-for-genetic-disease/zenUXJS2URg/">Small molecule therapy for genetic disease, edited by Jess G. Thoene</a></span> - <span property="potentialAction" typeOf="OrganizeAction"><span property="agent" typeof="LibrarySystem http://library.link/vocab/LibrarySystem" resource="http://link.library.missouri.edu/"><span property="name http://bibfra.me/vocab/lite/label"><a property="url" href="http://link.library.missouri.edu/">University of Missouri Libraries</a></span></span></span></span></div>
