MARC details
| 000 -LIDER |
|---|
| fixed length control field |
03946nam a22006015i 4500 |
| 001 - CONTROL NUMBER |
|---|
| control field |
978-3-662-52847-1 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
|---|
| control field |
20180206183004.0 |
| 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 |
160705s2016 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9783662528471 |
| -- |
978-3-662-52847-1 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
QH431 |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MFN |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MED107000 |
| Source |
bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
|---|
| Classification number |
611.01816 |
| Edition number |
23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
|---|
| Classification number |
599.935 |
| Edition number |
23 |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
JIMD Reports, Volume 28 |
| Medium |
[recurso electrónico] / |
| Statement of responsibility, etc. |
edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
| 264 #1 - |
|---|
| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| -- |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
VI, 135 p. |
| Other physical details |
online resource. |
| 336 ## - |
|---|
| -- |
text |
| -- |
txt |
| -- |
rdacontent |
| 337 ## - |
|---|
| -- |
computer |
| -- |
c |
| -- |
rdamedia |
| 338 ## - |
|---|
| -- |
online resource |
| -- |
cr |
| -- |
rdacarrier |
| 347 ## - |
|---|
| -- |
text file |
| -- |
PDF |
| -- |
rda |
| 490 1# - SERIES STATEMENT |
|---|
| Series statement |
JIMD Reports, |
| International Standard Serial Number |
2192-8304 ; |
| Volume/sequential designation |
28 |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:?-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate -- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy -- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure -- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease -- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS -- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency -- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice -- In Patients with an ?-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease -- In Utero Diagnosis of Niemann?Pick Type C in the Absence of Family History -- Multiple, Successful Pregnancies in Pompe Disease -- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans -- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011?2014). |
| 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 |
|---|
| 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 |
9783662528464 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
|---|
| Uniform title |
JIMD Reports, |
| -- |
2192-8304 ; |
| Volume number/sequential designation |
28 |
| 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/10.1007/978-3-662-52847-1 |
| 912 ## - |
|---|
| -- |
ZDB-2-SBL |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Koha item type |
Libro Electrónico |
