MARC details
000 -LIDER |
fixed length control field |
04871nam a22006615i 4500 |
001 - CONTROL NUMBER |
control field |
978-3-662-58365-4 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20210201191330.0 |
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 |
181109s2018 gw | s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783662583654 |
-- |
978-3-662-58365-4 |
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 |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
MFN |
Source |
thema |
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 42 |
Medium |
[electronic resource] / |
Statement of responsibility, etc. |
edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
250 ## - EDITION STATEMENT |
Edition statement |
1st ed. 2018. |
264 #1 - |
-- |
Berlin, Heidelberg : |
-- |
Springer Berlin Heidelberg : |
-- |
Imprint: Springer, |
-- |
2018. |
300 ## - PHYSICAL DESCRIPTION |
Extent |
VI, 119 p. 18 illus., 12 illus. in color. |
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 |
42 |
500 ## - GENERAL NOTE |
General note |
Acceso multiusuario |
505 0# - FORMATTED CONTENTS NOTE |
Formatted contents note |
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa -- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders -- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair -- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria -- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops -- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis -- Mitochondrial Disease in Children: The Nephrologist's Perspective -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients -- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis -- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review -- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. |
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. |
541 ## - IMMEDIATE SOURCE OF ACQUISITION NOTE |
Owner |
UABC ; |
Method of acquisition |
Temporal ; |
Date of acquisition |
01/01/2021-12/31/2023. |
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 |
Metabolic diseases. |
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Molecular biology. |
650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Human Genetics. |
-- |
https://scigraph.springernature.com/ontologies/product-market-codes/B12008 |
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Metabolic Diseases. |
-- |
https://scigraph.springernature.com/ontologies/product-market-codes/H33118 |
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Pediatrics. |
-- |
https://scigraph.springernature.com/ontologies/product-market-codes/H49006 |
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Término temático o nombre geográfico como elemento de entrada |
Molecular Medicine. |
-- |
https://scigraph.springernature.com/ontologies/product-market-codes/B1700X |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Morava, Eva. |
Relator term |
editor. |
Relator code |
edt |
-- |
http://id.loc.gov/vocabulary/relators/edt |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Baumgartner, Matthias. |
Relator term |
editor. |
Relator code |
edt |
-- |
http://id.loc.gov/vocabulary/relators/edt |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Patterson, Marc. |
Relator term |
editor. |
Relator code |
edt |
-- |
http://id.loc.gov/vocabulary/relators/edt |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Rahman, Shamima. |
Relator term |
editor. |
Relator code |
edt |
-- |
http://id.loc.gov/vocabulary/relators/edt |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Zschocke, Johannes. |
Relator term |
editor. |
Relator code |
edt |
-- |
http://id.loc.gov/vocabulary/relators/edt |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Peters, Verena. |
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) |
773 0# - HOST ITEM ENTRY |
Title |
Springer Nature eBook |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Relationship information |
Printed edition: |
International Standard Book Number |
9783662583647 |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Relationship information |
Printed edition: |
International Standard Book Number |
9783662583661 |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
Uniform title |
JIMD Reports, |
-- |
2192-8304 ; |
Volume number/sequential designation |
42 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Public note |
Libro electrónico |
Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-58365-4 |
912 ## - |
-- |
ZDB-2-SBL |
912 ## - |
-- |
ZDB-2-SXB |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Libro Electrónico |