Laboratory Guide to the Methods in Biochemical Genetics
Published on 21. July 2008
Book
Mixed media product
XXVI, 860 pages
978-3-540-76697-1 (ISBN)
Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
More details
Edition
2008
Language
English
Place of publication
Berlin
Germany
Publishing group
Springer Berlin
Target group
Professional and scholarly
Professional/practitioner
Illustrations
113 s/w Tabellen
113 black & white tables, biography
Dimensions
Height: 27.6 cm
Width: 20.3 cm
ISBN-13
978-3-540-76697-1 (9783540766971)
DOI
10.1007/978-3-540-76698-8
Schweitzer Classification
Other editions
New editions
Nenad Blau | Frédéric M. Vaz
Laboratory Guide to the Methods in Biochemical Genetics
Book
11/2024
2nd Edition
Springer
€181.89
Shipment within 15-20 days
Additional editions
Nenad Blau | Marinus Duran | K. Michael Gibson
Laboratory Guide to the Methods in Biochemical Genetics
E-Book
05/2008
1st Edition
Springer
€128.39
Available for download
Content
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 and Related 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.