JIMD Reports, Volume 38 (Registro nro. 241644)

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
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 01/02/2021   01/02/2021 1 Libro Electrónico

Con tecnología Koha