JIMD Reports, Volume 41 (Registro nro. 241727)

MARC details
000 -LIDER
fixed length control field 05093nam a22006615i 4500
001 - CONTROL NUMBER
control field 978-3-662-58081-3
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20210201191303.0
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 180831s2018 gw | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9783662580813
-- 978-3-662-58081-3
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 41
Medium [electronic resource] :
Remainder of title Focus Issue: Adults and Metabolism /
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, 129 p.
Other physical details online resource.
336 ## -
-- text
-- txt
-- rdacontent
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-- 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 41
500 ## - GENERAL NOTE
General note Acceso multiusuario
505 0# - FORMATTED CONTENTS NOTE
Formatted contents note Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
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 9783662580806
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783662580820
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE
Uniform title JIMD Reports,
-- 2192-8304 ;
Volume number/sequential designation 41
856 40 - ELECTRONIC LOCATION AND ACCESS
Public note Libro electrónico
Uniform Resource Identifier http://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-58081-3
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

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