MARC details
| 000 -LIDER |
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| fixed length control field |
04011nam a22006135i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-3-662-50409-3 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20180206183126.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
160505s2016 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783662504093 |
| -- |
978-3-662-50409-3 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
QH431 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MFN |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED107000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
611.01816 |
| Edition number |
23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
599.935 |
| Edition number |
23 |
| 245 10 - TITLE STATEMENT |
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| Title |
JIMD Reports, Volume 27 |
| Medium |
[recurso electrónico] / |
| Statement of responsibility, etc. |
edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
| 250 ## - EDITION STATEMENT |
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| Edition statement |
1st ed. 2016. |
| 264 #1 - |
|---|
| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| -- |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
VI, 112 p. 28 illus., 14 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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| -- |
text |
| -- |
txt |
| -- |
rdacontent |
| 337 ## - |
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| -- |
computer |
| -- |
c |
| -- |
rdamedia |
| 338 ## - |
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| -- |
online resource |
| -- |
cr |
| -- |
rdacarrier |
| 347 ## - |
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| -- |
text file |
| -- |
PDF |
| -- |
rda |
| 490 1# - SERIES STATEMENT |
|---|
| Series statement |
JIMD Reports, |
| International Standard Serial Number |
2192-8304 ; |
| Volume/sequential designation |
27 |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Molecular biology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Metabolic diseases. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Metabolic Diseases. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Término temático o nombre geográfico como elemento de entrada |
Molecular Medicine. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Morava, Eva. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Baumgartner, Matthias. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Patterson, Marc. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Rahman, Shamima. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Zschocke, Johannes. |
| Relator term |
editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Peters, Verena. |
| Relator term |
editor. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
|---|
| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Relationship information |
Printed edition: |
| International Standard Book Number |
9783662504086 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
|---|
| Uniform title |
JIMD Reports, |
| -- |
2192-8304 ; |
| Volume number/sequential designation |
27 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Public note |
Libro electrónico |
| Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-50409-3 |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Libro Electrónico |
