MARC details
000 -LIDER |
fixed length control field |
05093nam a22006615i 4500 |
001 - CONTROL NUMBER |
control field |
978-3-662-58081-3 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20210201191303.0 |
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 |
180831s2018 gw | s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783662580813 |
-- |
978-3-662-58081-3 |
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 41 |
Medium |
[electronic resource] : |
Remainder of title |
Focus Issue: Adults and Metabolism / |
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, 129 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 |
41 |
500 ## - GENERAL NOTE |
General note |
Acceso multiusuario |
505 0# - FORMATTED CONTENTS NOTE |
Formatted contents note |
Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. |
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 |
9783662580806 |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Relationship information |
Printed edition: |
International Standard Book Number |
9783662580820 |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
Uniform title |
JIMD Reports, |
-- |
2192-8304 ; |
Volume number/sequential designation |
41 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Public note |
Libro electrónico |
Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-58081-3 |
912 ## - |
-- |
ZDB-2-SBL |
912 ## - |
-- |
ZDB-2-SXB |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Libro Electrónico |