Tay-Sachs disease (Record no. 20795)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04819cam a2200649La 4500 |
| 001 - CONTROL NUMBER | |
| control field | ocm81487479 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OCoLC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20141103172209.0 |
| 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---uuuuu |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 010226s2001 caua ob 001 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | |
| Language of cataloging | eng |
| Description conventions | pn |
| Transcribing agency | YUS |
| Modifying agency | N$T |
| -- | YDXCP |
| -- | IDEBK |
| -- | E7B |
| -- | OCLCQ |
| -- | MERUC |
| -- | OPELS |
| -- | OCLCQ |
| -- | OPELS |
| -- | OCLCF |
| -- | OCLCQ |
| 019 ## - | |
| -- | 154724658 |
| -- | 648303125 |
| -- | 823826826 |
| -- | 823895725 |
| -- | 824088367 |
| -- | 824134800 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9780080490304 (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 0080490301 (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 0120176440 (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9780120176441 (electronic bk.) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 1281004766 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781281004765 |
| 029 1# - (OCLC) | |
| OCLC library identifier | DEBSZ |
| System control number | 405292929 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (OCoLC)81487479 |
| Canceled/invalid control number | (OCoLC)154724658 |
| -- | (OCoLC)648303125 |
| -- | (OCoLC)823826826 |
| -- | (OCoLC)823895725 |
| -- | (OCoLC)824088367 |
| -- | (OCoLC)824134800 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RJ399.T36 |
| Item number | T39 2001 |
| 060 #4 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER | |
| Classification number | W1 |
| Item number | AD615 v.44 2001 |
| 060 #4 - NATIONAL LIBRARY OF MEDICINE CALL NUMBER | |
| Classification number | WD 205.5.L5 |
| Item number | T236 2001 |
| 070 ## - NATIONAL AGRICULTURAL LIBRARY CALL NUMBER | |
| Classification number | 443 |
| Item number | .D39 v. 44 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSY |
| Subject category code subdivision | 018000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAK |
| Source | bicssc |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.858845 |
| Edition number | 22 |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | TEFA |
| 245 00 - TITLE STATEMENT | |
| Title | Tay-Sachs disease |
| Medium | [electronic resource] / |
| Statement of responsibility, etc. | edited by Robert J. Desnick, Michael M. Kaback. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Place of publication, distribution, etc. | San Diego, Calif. ; |
| -- | London : |
| Name of publisher, distributor, etc. | Academic, |
| Date of publication, distribution, etc. | 2001. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (xx, 363 pages) : |
| Other physical details | illustrations. |
| 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 |
| 490 1# - SERIES STATEMENT | |
| Series statement | Advances in genetics ; |
| Volume/sequential designation | v. 44 |
| 550 ## - ISSUING BODY NOTE | |
| Issuing body note | Made available through: Science Direct. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc | Includes bibliographical references and index. |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Tay-Sachs Disease: From Clinical Description to Molecular Defect -- Barney Sachs and The History of the Neuropathologic Description of Tay-Sachs Disease -- Early Epidemiologic Studies of Tay-Sachs Disease -- Identification of the Accumulated Ganglioside -- Discovery of the Hexosaminidase Isoenzymes -- Tay-Sachs Disease: The Search for the Enzymatic Defect -- Discovery of [beta]-Hexosaminidase a Deficiency in Tay-Sachs Disease -- The GM2-gangliosidoses and the elucidation of the [beta]-hexosaminidase system -- Subunit structure of hte hexosaminidase isozymes -- Molecular genetics of the [beta]xosaminidase isoenzymes: An introduction -- Cloning the [beta]-hexosaminidase genes -- The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachs disease -- The [beta]-hexosaminidase story in Toronto: From enzyme structure to gene mutation -- Biosynthesis of normal and mutant [beta]-hexosaminidases -- Recognition and delineation of [beta]-hexosaminidase [alpha]-chain variants: A historical and personal perspective -- Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews -- Naturally occurring mutations in GM2 gangliosidosis: A compendium -- Targeting the hexosaminidase genes: Mouse models of the GM2 gangliosidoses -- Molecular epidemiology of Tay-Sachs disease -- Screening and prevention in Tay-Sachs disease: Origins, update, and impact -- Not preventing--yet, just avoiding Tay-Sachs disease -- Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases -- The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease -- Tay-Sachs disease and preimplantation genetic diagnosis -- Treatment of GM2 gangliosidosis: Past experiences, implications, and future prospects -- Tay-Sachs disease: Psychologic care of carriers and affected families -- Future perspectives for Tay-Sachs disease. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Tay-Sachs disease. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Tay-Sachs Disease. |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | PSYCHOLOGY |
| General subdivision | Mental Illness. |
| Source of heading or term | bisacsh |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Tay-Sachs disease. |
| Source of heading or term | fast |
| Authority record control number | (OCoLC)fst01144095 |
| 655 #4 - INDEX TERM--GENRE/FORM | |
| Genre/form data or focus term | Electronic books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desnick, Robert J. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaback, Michael M. |
| Fuller form of name | (Michael Melvin) |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| Title | Tay-Sachs disease (print) |
| Record control number | (OCoLC)46393297 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Advances in genetics ; |
| Volume number/sequential designation | v. 44. |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Materials specified | ScienceDirect |
| Uniform Resource Identifier | <a href="http://www.sciencedirect.com/science/book/9780120176441">http://www.sciencedirect.com/science/book/9780120176441</a> |
| 938 ## - | |
| -- | ebrary |
| -- | EBRY |
| -- | ebr10186341 |
| 938 ## - | |
| -- | EBSCOhost |
| -- | EBSC |
| -- | 194946 |
| 938 ## - | |
| -- | YBP Library Services |
| -- | YANK |
| -- | 2586346 |
| 938 ## - | |
| -- | Ingram Digital eBook Collection |
| -- | IDEB |
| -- | 100476 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | E(electronic)-Books |
| 994 ## - | |
| -- | C0 |
| -- | TEF |
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