Laboratory Guide to the Methods in Biochemical Genetics (Registro nro. 276750)

MARC details
000 -LIDER
fixed length control field 04709nam a22006015i 4500
001 - CONTROL NUMBER
control field 978-3-031-58819-8
003 - CONTROL NUMBER IDENTIFIER
control field DE-He213
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516160153.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
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008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
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020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9783031588198
-- 978-3-031-58819-8
050 #4 - LIBRARY OF CONGRESS CALL NUMBER
Classification number RB155-155.8
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 616.042
Edition number 23
245 10 - TITLE STATEMENT
Title Laboratory Guide to the Methods in Biochemical Genetics
Medium [electronic resource] /
Statement of responsibility, etc. edited by Nenad Blau, Frédéric M. Vaz.
250 ## - EDITION STATEMENT
Edition statement 2nd ed. 2024.
264 #1 -
-- Cham :
-- Springer International Publishing :
-- Imprint: Springer,
-- 2024.
300 ## - PHYSICAL DESCRIPTION
Extent XVII, 533 p. 177 illus., 86 illus. in color.
Other physical details online resource.
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-- text
-- txt
-- rdacontent
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-- computer
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-- rdamedia
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-- online resource
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-- text file
-- PDF
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505 0# - FORMATTED CONTENTS NOTE
Formatted contents note Laboratory Strategies in Biochemical Genetics -- Quality Control and Quality Assurance in the Biochemical Genetic Laboratory -- Simple Metabolic Screening Tests -- Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate -- Amino Acids -- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine -- GABA, Homocarnosine, and ?-Alanine -- Pipecolic Acid -- Organic Acids -- Acylcarnitines, Including In Vitro Loading Tests -- Plasmalogens and Polyunsaturated Fatty Acids -- Very-Long-Chain Fatty Acids and Phytanic Acid -- Oxalate, Glycolate, Glycerate, Sulfate, and Citrate -- Glycerol and Glycerol Phosphates -- Biotinidase -- Mitochondrial Respiratory Chain -- Mucopolysaccharides -- Oligosaccharides -- Sialic Acid -- Glycosphingolipids -- Congenital Disorders of Glycosylation -- Enzymes and Metabolites of Carbohydrate Metabolism -- Polyols -- Diagnosis of Inherited Defects of Cholesterol Biosynthesis -- Lipoproteins -- Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry -- Bile Acids -- Pterins andRelated Enzymes -- Biogenic Amines -- Folates -- Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry -- Creatine and its Metabolites -- Porphyrins, Porphobilinogen, and ?-Aminolevulinic Acid -- Trimethylaminuria -- A Tandem Mass Spectrometry Primer for Metabolite Disease Detection -- Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders.
520 ## - SUMMARY, ETC.
Summary, etc. Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases. The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical methods that depend on technologies that very few are currently employing in their labs, but are certainly the functional techniques in a biochemical laboratory in this post-genomics era. Each chapter is sufficiently detailed to be self-contained, thus enabling laboratory specialists to adopt the method in their own laboratory and obviating the need for additional methods or references. The second updated edition of the book is unique in that it is the first of its kind to be published in the last 13 years, and individual chapters have been developed by experts in the field citing both established and cutting-edge (omics) technology. Thus, it is an indispensable resource for researchers and clinicians working on the field of inherited metabolic diseases and those interested in laboratory diagnoses.
541 ## - IMMEDIATE SOURCE OF ACQUISITION NOTE
Owner UABC ;
Method of acquisition Perpetuidad
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Medical genetics.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Clinical biochemistry.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Metabolism
Subdivisión general Disorders.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Biochemistry.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Medicine
Subdivisión general Research.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Biology
Subdivisión general Research.
650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Medical Genetics.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Medical Biochemistry.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Metabolic Disease.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Biochemistry.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Término temático o nombre geográfico como elemento de entrada Biomedical Research.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blau, Nenad.
Relator term editor.
Relator code edt
-- http://id.loc.gov/vocabulary/relators/edt
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vaz, Frédéric M.
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 9783031588181
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783031588204
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Relationship information Printed edition:
International Standard Book Number 9783031588211
856 40 - ELECTRONIC LOCATION AND ACCESS
Public note Libro electrónico
Uniform Resource Identifier http://libcon.rec.uabc.mx:2048/login?url=https://doi.org/10.1007/978-3-031-58819-8
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942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Libro Electrónico
Existencias
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  Colección de Libros Electrónicos Biblioteca Electrónica Biblioteca Electrónica 16/05/2025   16/05/2025 1 Libro Electrónico

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