JIMD Reports, Volume 40 (Registro nro. 241559)

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
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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 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
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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