MARC details
000 -LIDER |
fixed length control field |
04954nam a22006615i 4500 |
001 - CONTROL NUMBER |
control field |
978-3-662-57880-3 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20210201191255.0 |
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 |
180717s2018 gw | s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783662578803 |
-- |
978-3-662-57880-3 |
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 40 |
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, 103 p. 20 illus., 13 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 |
40 |
500 ## - GENERAL NOTE |
General note |
Acceso multiusuario |
505 0# - FORMATTED CONTENTS NOTE |
Formatted contents note |
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan -- Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation -- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female -- The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria -- Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria -- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening -- Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers -- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features -- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria -- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood -- Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC. |
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 |
9783662578797 |
776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
Relationship information |
Printed edition: |
International Standard Book Number |
9783662578810 |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
Uniform title |
JIMD Reports, |
-- |
2192-8304 ; |
Volume number/sequential designation |
40 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Public note |
Libro electrónico |
Uniform Resource Identifier |
http://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-57880-3 |
912 ## - |
-- |
ZDB-2-SBL |
912 ## - |
-- |
ZDB-2-SXB |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Libro Electrónico |