MARC details
| 000 -LEADER |
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| fixed length control field |
05634cam a2200517Ii 4500 |
| 001 - CONTROL NUMBER |
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| control field |
200452151 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
TR-AnTOB |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20230915001314.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS |
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| fixed length control field |
m o d |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr ||||||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
220106s2022 nju ob 001 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9781119697312 |
| Qualifying information |
(electronic bk. : oBook) |
|
|---|
| International Standard Book Number |
111969731X |
| Qualifying information |
(electronic bk. : oBook) |
|
|---|
| International Standard Book Number |
9781119697251 |
| Qualifying information |
(epub) |
|
|---|
| International Standard Book Number |
1119697255 |
| Qualifying information |
(epub) |
|
|---|
| International Standard Book Number |
9781119697305 |
| Qualifying information |
(Adobe PDF) |
|
|---|
| International Standard Book Number |
1119697301 |
| Qualifying information |
(Adobe PDF) |
|
|---|
| Canceled/invalid ISBN |
9781119697282 |
| Qualifying information |
(cloth) |
| 024 7# - OTHER STANDARD IDENTIFIER |
|---|
| Standard number or code |
10.1002/9781119697312 |
| Source of number or code |
doi |
| 035 ## - SYSTEM CONTROL NUMBER |
|---|
| System control number |
(OCoLC)1325677592 |
| 040 ## - CATALOGING SOURCE |
|---|
| Original cataloging agency |
DLC |
| Language of cataloging |
eng |
| Description conventions |
rda |
| Transcribing agency |
DLC |
| Modifying agency |
DG1 |
| -- |
TR-AnTOB |
| 041 0# - LANGUAGE CODE |
|---|
| Language code of text/sound track or separate title |
İngilizce |
| 042 ## - AUTHENTICATION CODE |
|---|
| Authentication code |
pcc |
| 060 00 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER |
|---|
| Classification number |
QU 265.5.L9 |
| Item number |
L993 2022 |
| 096 ## - LOCALLY ASSIGNED NLM-TYPE CALL NUMBER (OCLC) |
|---|
| Classification number |
QU 265.5.L9 |
| Item number |
L993 2022EBK |
| 130 0# - MAIN ENTRY--UNIFORM TITLE |
|---|
| Uniform title |
Lysosomal storage disorders (Mehta) |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Lysosomal storage disorders : |
| Remainder of title |
a practical guide / |
| Statement of responsibility, etc. |
edited by Atul B Mehta, Bryan Winchester |
| 250 ## - EDITION STATEMENT |
|---|
| Edition statement |
Second edition |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Place of production, publication, distribution, manufacture |
Hoboken, NJ : |
| Name of producer, publisher, distributor, manufacturer |
Wiley-Blackwell, |
| Date of production, publication, distribution, manufacture, or copyright notice |
2022. |
| 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. note |
Includes bibliographical references and index. |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Front Matter -- General Aspects of Lysosomal Storage Diseases. Lysosomal Storage Diseases / Atul Mehta, Bryan Winchester -- The Lysosomal System / Gennaro Napolitano, Frances M Platt, Andrea Ballabio -- The Lysosomal System / Matthew C Micsenyi, Steven U Walkley -- Clinical Aspects and Clinical Diagnosis / Michael Beck -- Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases / Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, Simon Heales -- Newborn Screening for Lysosomal Storage Diseases / Roy WA Peake -- Genetics of Lysosomal Storage Diseases / Maria Fuller, Jack Goldblatt -- Classification of Lysosomal Diseases / Bryan Winchester -- The Individual Diseases. Gaucher Disease / Deborah Elstein, Ari Zimran -- Fabry Disease / Gregory M Pastores, Atul Mehta -- The Gangliosidoses / Michael Beck, Joe TR Clarke, Konrad Sandhoff -- Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy / Volkmar Gieselmann, David A Wenger, Ingeborg Krägeloh-Mann -- Types A and B Niemann-Pick Disease / Melissa P Wasserstein, Robert J Desnick, Edward H Schuchman -- Niemann-Pick Disease Type C / Marie T Vanier, Frances M Platt, Emily R Eden, Marc C Patterson -- Other Lipidoses / Thierry Levade, Jeffrey A Medin, Donna L Bernstein, Manisha Balwani, Gregory A Grabowski -- The Mucopolysaccharidoses / Roberto Giugliani, Uma Ramaswami, Anna Tylki-Szymańska, Barbara K Burton, James Davison, Chris Hendriksz, Young Bae Sohn, Paul Harmatz, Erin Jozwiak, Torayuki Okuyama, Adriana M Montaño, William S Sly, Barbara Triggs-Raine, Promita Ghosh, Marvin Natowicz -- Pompe Disease / Arnold JJ Reuser, Ans T Ploeg, Priya S Kishnani, WWM Pim Pijnappel -- Glycoproteinoses / Dag Malm, Hilde Monica Frostad Riise Stensland, Øivind Nilssen -- Defect in Protective Protein/Cathepsin A / Alessandra d'Azzo, Diantha Vlekkert, Ida Annunziata -- Multiple Enzyme Deficiencies / Nicole M Muschol, Cornelia Rudolph, Thomas Braulke, Nicola Brunetti-Pierri, Graciana Diez-Roux, Andrea Ballabio -- Lysosomal Membrane Defects / Michael Schwake, Paul Saftig -- Neuronal Ceroid Lipofuscinoses / Jonathan D Cooper, Sara E Mole, Angela Schulz, Ruth E Williams -- Miscellaneous Disorders of the Lysosome / Timothy M Cox, Bryan Winchester -- Therapy and Patient Issues. Current Treatment / Michael Beck -- Central Nervous System Aspects, Neurodegeneration, and the Blood-Brain Barrier / David J Begley, Cinzia M Bellettato, Maurizio Scarpa -- Emerging Therapies / Gregory A Grabowski, Derralynn Hughes -- Lysosomal Storage Diseases in the Developing World / Chris Hendriksz, Atul Mehta -- The Patient Perspective on Rare Diseases / Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, George Timmins -- Index |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
"This book is the fruit of an ambitious project which aims to review both the scientific and the clinical aspects of lysosomal storage disorders. We perceive a need for an accessible volume giving an up to date overview of the subject. Even when effective treatments are available, there remains an urgent need to highlight awareness of the diseases so that early and appropriate treatment may be sought [7]. Furthermore, in a rapidly changing world, there is a real need to improve access to expensive treatments. The first section of the book reviews current understanding of the physiology and pathophysiology of lysosomal storage disorders and we again to attempt to classify the conditions. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. The book is aimed at a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations"-- |
| Assigning source |
Provided by publisher |
| 650 12 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Lysosomal Storage Diseases. |
| Authority record control number or standard number |
https://id.nlm.nih.gov/mesh/D016464 |
|
|---|
| Topical term or geographic name entry element |
Lysosomes |
| General subdivision |
pathology. |
| Authority record control number or standard number |
https://id.nlm.nih.gov/mesh/D008247Q000473 |
| 655 #0 - INDEX TERM--GENRE/FORM |
|---|
| Genre/form data or focus term |
Electronic books |
| 9 (RLIN) |
2032 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Mehta, Atul B., |
| Authority record control number or standard number |
http://id.loc.gov/authorities/names/n99802403 |
| Relator term |
editor |
|
|---|
| Personal name |
Winchester, Bryan, |
| Authority record control number or standard number |
http://id.loc.gov/authorities/names/n2012184326 |
| Relator term |
editor |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Materials specified |
Wiley Online Library |
| Public note |
Connect to resource |
| Uniform Resource Identifier |
<a href="https://onlinelibrary.wiley.com/doi/book/10.1002/9781119697312">https://onlinelibrary.wiley.com/doi/book/10.1002/9781119697312</a> |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
National Library of Medicine |
| Koha item type |
E-Book |
