Lysosomal storage disorders : a practical guide / (Record no. 206229)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 05078cam a2200685Ia 4500 |
| 001 - CONTROL NUMBER | |
| control field | ocn813987805 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OCoLC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20171113131528.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
| fixed length control field | m o d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr cnu---unuuu |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 121023s2013 enk ob 001 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781118514641 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 1118514645 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781118514672 |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 111851467X |
| Qualifying information | (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781283644419 |
| Qualifying information | (MyiLibrary) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 128364441X |
| Qualifying information | (MyiLibrary) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781118514696 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 1118514696 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9780470670873 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 0470670878 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | AU@ |
| System control number | 000050378592 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | DEBBG |
| System control number | BV040884973 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | DEBSZ |
| System control number | 431220263 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | GBVCP |
| System control number | 79019984X |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | NZ1 |
| System control number | 14836393 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | NZ1 |
| System control number | 15340438 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | DEBBG |
| System control number | BV043395138 |
| 029 1# - OTHER SYSTEM CONTROL NUMBER (OCLC) | |
| OCLC library identifier | AU@ |
| System control number | 000059229202 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)813987805 |
| Canceled/invalid control number | (OCoLC)815389182 |
| -- | (OCoLC)872697225 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | N$T |
| Language of cataloging | eng |
| Description conventions | pn |
| Transcribing agency | N$T |
| Modifying agency | E7B |
| -- | YDXCP |
| -- | OCLCQ |
| -- | UIU |
| -- | DG1 |
| -- | COO |
| -- | OCLCF |
| -- | NLGGC |
| -- | MHW |
| -- | EBLCP |
| -- | CGU |
| -- | MEAUC |
| -- | DEBSZ |
| -- | CNSPO |
| -- | OCLCQ |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | MAIN |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC632.L94 |
| 060 #4 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER | |
| Classification number | WD 205 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | SCI |
| Subject category code subdivision | 017000 |
| Source | bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 571.6/55 |
| Edition number | 23 |
| 245 00 - TITLE STATEMENT | |
| Title | Lysosomal storage disorders : a practical guide / |
| Statement of responsibility, etc. | edited by Atul Mehta, Bryan Winchester. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Place of publication, distribution, etc. | Chichester, West Sussex : |
| Name of publisher, distributor, etc. | Wiley-Blackwell, |
| Date of publication, distribution, etc. | 2013. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc | Includes bibliographical references and index. |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | The lysosomal system : physiology and pathology / Matthew C. Micsenyi and Steven U. Walkley -- Clinical aspects and clinical diagnosis / Ed Wraith and Michael Beck -- Laboratory diagnosis of lysosomal storage diseases / Bryan Winchester -- Genetics of lysosomal storage disorders and counseling / John J. Hopwood -- Classification of lysosomal storage diseases / Bryan Winchester -- Gaucher disease / Deborah Elstein and Ari Zimran -- Fabry disease / Atul Mehta and Uma Ramaswami -- The gangliosidoses / Joe T.R. Clarke -- Metachromatic leukodystrophy and globoid cell leukodystrophy / Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann -- Types A and B Niemannpick disease / Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman -- Niemannpick disease type C / Marie T. Vanier and Marc C. Patterson -- The mucopolysaccharidoses / Roberto Giugliani -- Pompe disease / Arnold J.J. Reuser and Ans T. van der Ploeg -- Glycoproteinoses / Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen -- Defect in protective protein/cathepsin A : galactosialidosis / Alessandra d'Azzo and Erik J. Bonten -- Multiple enzyme deficiencies -- Defects in transport : mucolipidosis II; mucolipidosis III, and mucolipidosis III / Annick Raas-Rothschild, Sandra Pohl, and Thomas Braulke -- Multiple sulfatase deficiency / Graciana Diez-Roux and Andrea Ballabio -- Lysosomal membrane defects / Michael Schwake and Paul Saftig -- Neuronal ceroid lipofuscinoses / Jonathan D. Cooper and Ruth E. Williams -- Other lysosomal disorders / Bryan Winchester and Timothy M. Cox -- Current treatments / Timothy M. Cox -- Central nervous system aspects, neurodegeneration, and the bloodbrain barrier / David J. Begley and Maurizio Scarpa -- Emerging treatments and future outcomes / T. Andrew Burrow and Gregory A. Grabowski -- Newborn, high risk, and carrier screening for lysosomal storage disorders / Gabor E. Linthorst and Carla E.M. Hollak -- The patient perspective on rare diseases / Alastair Kent, Christine Lavery, and Jeremy Manuel. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced. These diseases present to a very wide range of phy. |
| 588 0# - SOURCE OF DESCRIPTION NOTE | |
| Source of description note | Print version record. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomal storage diseases. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomal Storage Diseases. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomes |
| General subdivision | pathology. |
| 650 #4 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomal Storage Diseases. |
| 650 #4 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomes |
| General subdivision | pathology. |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | SCIENCE |
| General subdivision | Life Sciences |
| -- | Cell Biology. |
| Source of heading or term | bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Lysosomal storage diseases. |
| Source of heading or term | fast |
| Authority record control number | (OCoLC)fst01004400 |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mehta, Atul B. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Winchester, Bryan. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Title | Lysosomal storage disorders. |
| Place, publisher, and date of publication | Chichester, West Sussex : Wiley-Blackwell, 2013 |
| International Standard Book Number | 9780470670873 |
| Record control number | (DLC) 2012017385 |
| -- | (OCoLC)793073834 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | http://onlinelibrary.wiley.com/book/10.1002/9781118514672 |
| Public note | Wiley Online Library |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | |
| Koha item type | Books |
No items available.