Small molecule therapy for genetic disease / (Record no. 521700)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03509nam a22003498i 4500 |
| 001 - CONTROL NUMBER | |
| control field | CR9780511777905 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | UkCbUP |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20200124160319.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION | |
| fixed length control field | m|||||o||d|||||||| |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr|||||||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 100519s2010||||enk o ||1 0|eng|d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9780511777905 (ebook) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Cancelled/invalid ISBN | 9780521517812 (hardback) |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | UkCbUP |
| Language of cataloging | eng |
| Description conventions | rda |
| Transcribing agency | UkCbUP |
| 050 00 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC627.8 |
| Item number | .S55 2010 |
| 082 00 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.3/9042 |
| Edition number | 22 |
| 245 00 - TITLE STATEMENT | |
| Title | Small molecule therapy for genetic disease / |
| Statement of responsibility, etc | edited by Jess G. Thoene. |
| 264 #1 - Production, Publication, Distribution, Manufacture, and Copyright Notice (R) | |
| Place of production, publication, distribution, manufacture (R) | Cambridge : |
| Name of producer, publisher, distributor, manufacturer (R) | Cambridge University Press, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2010. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (xiii, 223 pages) : |
| Other physical details | digital, PDF file(s). |
| 336 ## - Content Type (R) | |
| Content type term (R) | text |
| Content type code (R) | txt |
| Source (NR) | rdacontent |
| 337 ## - Media Type (R) | |
| Media type term (R) | computer |
| Media type code (R) | c |
| Source (NR) | rdamedia |
| 338 ## - Carrier Type (R) | |
| Carrier type term (R) | online resource |
| Carrier type code (R) | cr |
| Source (NR) | rdacarrier |
| 500 ## - GENERAL NOTE | |
| General note | Title from publisher's bibliographic system (viewed on 05 Oct 2015). |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 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. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | 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. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Metabolism, Inborn errors of |
| General subdivision | Chemotherapy |
| Form subdivision | Handbooks, manuals, etc. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Metabolism, Inborn errors of |
| General subdivision | Gene therapy |
| Form subdivision | Handbooks, manuals, etc. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Genetic disorders |
| General subdivision | Chemotherapy |
| Form subdivision | Handbooks, manuals, etc. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thoene, Jess G., |
| Relator term | editor. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Print version: |
| International Standard Book Number | 9780521517812 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1017/CBO9780511777905">https://doi.org/10.1017/CBO9780511777905</a> |
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