Lysosomal storage disorders : (Record no. 19872)

MARC details
000 -LEADER
fixed length control field 05091cam a2200709Ia 4500
001 - CONTROL NUMBER
control field ocn813987805
003 - CONTROL NUMBER IDENTIFIER
control field OCoLC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20230823095529.0
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 cnu---unuuu
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 121023s2013 enk ob 001 0 eng d
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
019 ## -
-- 815389182
-- 872697225
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9781118514641
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 1118514645
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9781118514672
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 111851467X
Qualifying information (electronic bk.)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9781283644419
Qualifying information (MyiLibrary)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 128364441X
Qualifying information (MyiLibrary)
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 9781118514696
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
ISBN 1118514696
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
Cancelled/invalid ISBN 9780470670873
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
Cancelled/invalid ISBN 0470670878
029 1# - (OCLC)
OCLC library identifier AU@
System control number 000050378592
029 1# - (OCLC)
OCLC library identifier DEBBG
System control number BV040884973
029 1# - (OCLC)
OCLC library identifier DEBSZ
System control number 431220263
029 1# - (OCLC)
OCLC library identifier GBVCP
System control number 79019984X
029 1# - (OCLC)
OCLC library identifier NZ1
System control number 14836393
029 1# - (OCLC)
OCLC library identifier NZ1
System control number 15340438
029 1# - (OCLC)
OCLC library identifier DEBBG
System control number BV043395138
029 1# - (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
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
049 ## - LOCAL HOLDINGS (OCLC)
Holding library MAIN
245 00 - TITLE STATEMENT
Title Lysosomal storage disorders :
Remainder of title a practical guide /
Statement of responsibility, etc edited by Atul Mehta, Bryan Winchester.
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 ## -
-- text
-- txt
-- rdacontent
337 ## -
-- computer
-- c
-- rdamedia
338 ## -
-- online resource
-- cr
-- 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.
588 0# -
-- Print version record.
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.
526 ## - STUDY PROGRAM INFORMATION NOTE
Department Life Sciences
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
-- (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
Display text 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 <a href="http://dx.doi.org/10.1002/9781118514672">http://dx.doi.org/10.1002/9781118514672</a>
Public note Wiley Online Library
994 ## -
-- 92
-- DG1

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