Laboratory Guide to the Methods in Biochemical Genetics - Blau, Nenad; Vaz, Frédéric M.; (szerk.) - Prospero Internetes Könyváruház

Laboratory Guide to the Methods in Biochemical Genetics
 
A termék adatai:

ISBN13:9783031588181
ISBN10:3031588185
Kötéstípus:Keménykötés
Terjedelem:533 oldal
Méret:254x178 mm
Nyelv:angol
Illusztrációk: 91 Illustrations, black & white; 86 Illustrations, color
700
Témakör:

Laboratory Guide to the Methods in Biochemical Genetics

 
Kiadás sorszáma: Second Edition 2024
Kiadó: Springer
Megjelenés dátuma:
Kötetek száma: 1 pieces, Book
 
Normál ár:

Kiadói listaár:
EUR 171.19
Becsült forint ár:
72 978 Ft (69 503 Ft + 5% áfa)
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Az Ön ára:

58 383 (55 602 Ft + 5% áfa )
Kedvezmény(ek): 20% (kb. 14 596 Ft)
A kedvezmény érvényes eddig: 2024. december 31.
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  példányt

 
Rövid leírás:

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.

Hosszú leírás:

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.

Tartalomjegyzék:
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.