MARC details
| 000 -LEADER |
|---|
| fixed length control field |
04173nam a22005655i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
TR-AnTOB |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20231109085806.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
|---|
| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
220624s2022 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9783662631232 |
| 024 7# - OTHER STANDARD IDENTIFIER |
|---|
| Standard number or code |
10.1007/978-3-662-63123-2 |
| Source of number or code |
doi |
| 040 ## - CATALOGING SOURCE |
|---|
| Original cataloging agency |
TR-AnTOB |
| Language of cataloging |
eng |
| Description conventions |
rda |
| Transcribing agency |
TR-AnTOB |
| 041 ## - LANGUAGE CODE |
|---|
| Language code of text/sound track or separate title |
İngilizce |
| 060 ## - NATIONAL LIBRARY OF MEDICINE CALL NUMBER |
|---|
| Classification number |
WD 205 |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MJW |
| Source |
bicssc |
|
|---|
| Subject category code |
MED069000 |
| Source |
bisacsh |
|
|---|
| Subject category code |
MKD |
| Source |
thema |
| 096 ## - LOCALLY ASSIGNED NLM-TYPE CALL NUMBER (OCLC) |
|---|
| Classification number |
WD205EBK |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Inborn Metabolic Diseases |
| Medium |
[electronic resource] : |
| Remainder of title |
Diagnosis and Treatment / |
| Statement of responsibility, etc. |
edited by Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter. |
| 250 ## - EDITION STATEMENT |
|---|
| Edition statement |
7th ed. 2022. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
|---|
| Place of production, publication, distribution, manufacture |
Berlin, Heidelberg : |
| Name of producer, publisher, distributor, manufacturer |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| 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 |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
|---|
| File type |
text file |
| Encoding format |
PDF |
| Source |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
I Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester. . |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Pediatrics. |
|
|---|
| Topical term or geographic name entry element |
Medical genetics. |
|
|---|
| Topical term or geographic name entry element |
Internal medicine. |
|
|---|
| Topical term or geographic name entry element |
Neurology . |
|
|---|
| Topical term or geographic name entry element |
Pediatrics. |
|
|---|
| Topical term or geographic name entry element |
Medical Genetics. |
|
|---|
| Topical term or geographic name entry element |
Internal Medicine. |
|
|---|
| Topical term or geographic name entry element |
Neurology. |
| 653 #0 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Metabolism, Inborn Errors -- diagnosis |
|
|---|
| Uncontrolled term |
Metabolism, Inborn Errors -- therapy |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Saudubray, Jean-Marie. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
|
|---|
| Personal name |
Baumgartner, Matthias R. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
|
|---|
| Personal name |
García-Cazorla, Ángeles. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
|
|---|
| Personal name |
Walter, John. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
<a href="https://doi.org/10.1007/978-3-662-63123-2">https://doi.org/10.1007/978-3-662-63123-2</a> |
| Materials specified |
Springer eBooks |
| Public note |
Online access link to the resource |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
National Library of Medicine |
| Koha item type |
E-Book |
