MARC details
000 -LIDER |
fixed length control field |
05083nam a22006615i 4500 |
001 - CONTROL NUMBER |
control field |
978-3-662-56610-7 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20210201191259.0 |
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 |
180328s2018 gw | s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783662566107 |
-- |
978-3-662-56610-7 |
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 38 |
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, 105 p. 20 illus., 7 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 |
38 |
500 ## - GENERAL NOTE |
General note |
Acceso multiusuario |
505 0# - FORMATTED CONTENTS NOTE |
Formatted contents note |
First Successful Conception Induced by a Male Cystinosis Patient -- Glutaric Acidemia Type 1: A Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB Presenting with Pseudometabolic Myopathy -- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism -- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry -- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency -- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A -- Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice -- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening -- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 -- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment -- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia -- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein 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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com. |
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 |
9783662566091 |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Relationship information |
Printed edition: |
International Standard Book Number |
9783662566114 |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
Uniform title |
JIMD Reports, |
-- |
2192-8304 ; |
Volume number/sequential designation |
38 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Public note |
Libro electrónico |
Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-56610-7 |
912 ## - |
-- |
ZDB-2-SBL |
912 ## - |
-- |
ZDB-2-SXB |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Libro Electrónico |