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The Resource Small molecule therapy for genetic disease, edited by Jess G. Thoene

Small molecule therapy for genetic disease, edited by Jess G. Thoene

Label
Small molecule therapy for genetic disease
Title
Small molecule therapy for genetic disease
Statement of responsibility
edited by Jess G. Thoene
Contributor
Subject
Genre
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
Instantiates
Publication
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
Publication
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

Library Locations

    • J. Otto Lottes Health Sciences LibraryBorrow it
      1 Hospital Dr, Columbia, MO, 65201, US
      38.939544 -92.328377
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