MARC details
000 -LIDER |
fixed length control field |
04030nam a22006135i 4500 |
001 - CONTROL NUMBER |
control field |
978-3-662-53681-0 |
003 - CONTROL NUMBER IDENTIFIER |
control field |
DE-He213 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20180206183137.0 |
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 |
161103s2016 gw | s |||| 0|eng d |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783662536810 |
-- |
978-3-662-53681-0 |
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 30 |
Medium |
[recurso electrónico] / |
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. 2016. |
264 #1 - |
-- |
Berlin, Heidelberg : |
-- |
Springer Berlin Heidelberg : |
-- |
Imprint: Springer, |
-- |
2016. |
300 ## - PHYSICAL DESCRIPTION |
Extent |
VI, 108 p. 20 illus., 13 illus. in color. |
Other physical details |
online resource. |
336 ## - |
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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 |
30 |
505 0# - FORMATTED CONTENTS NOTE |
Formatted contents note |
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux?Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel ?-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. |
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 |
9783662536803 |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE |
Uniform title |
JIMD Reports, |
-- |
2192-8304 ; |
Volume number/sequential designation |
30 |
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/10.1007/978-3-662-53681-0 |
912 ## - |
-- |
ZDB-2-SBL |
942 ## - ADDED ENTRY ELEMENTS (KOHA) |
Koha item type |
Libro Electrónico |