JIMD Reports, Volume 30 (Registro nro. 227857)

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 ## -
-- 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
Existencias
Estado de retiro Colección Ubicación permanente Ubicación actual Fecha de ingreso Total Checkouts Date last seen Número de copia Tipo de material
  Colección de Libros Electrónicos Biblioteca Electrónica Biblioteca Electrónica 06/02/2018   06/02/2018 1 Libro Electrónico

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