MARC details
| 000 -LIDER |
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| fixed length control field |
04440nam a22006135i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
978-3-662-53278-2 |
| 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 |
20180206182943.0 |
| 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 |
160908s2016 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783662532782 |
| -- |
978-3-662-53278-2 |
| 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 |
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| 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 29 |
| 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 - |
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| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| -- |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
VI, 113 p. 34 illus., 14 illus. in color. |
| Other physical details |
online resource. |
| 336 ## - |
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| -- |
text |
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txt |
| -- |
rdacontent |
| 337 ## - |
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| -- |
computer |
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c |
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rdamedia |
| 338 ## - |
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| -- |
online resource |
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cr |
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rdacarrier |
| 347 ## - |
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| -- |
text file |
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PDF |
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rda |
| 490 1# - SERIES STATEMENT |
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| Series statement |
JIMD Reports, |
| International Standard Serial Number |
2192-8304 ; |
| Volume/sequential designation |
29 |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency. |
| 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 |
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| Término temático o nombre geográfico como elemento de entrada |
Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Molecular biology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Término temático o nombre geográfico como elemento de entrada |
Metabolic diseases. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| 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 |
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| 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 |
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| 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 |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
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| Relationship information |
Printed edition: |
| International Standard Book Number |
9783662532775 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
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| Uniform title |
JIMD Reports, |
| -- |
2192-8304 ; |
| Volume number/sequential designation |
29 |
| 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/10.1007/978-3-662-53278-2 |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Libro Electrónico |
