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Nenad Blau & Marinus Duran
Laboratory Guide to the Methods in Biochemical Genetics [PDF ebook]

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Couverture du Nenad Blau & Marinus Duran: Laboratory Guide to the Methods in Biochemical Genetics (PDF)

€128.39

Table des matières

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.

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Langue Anglais ● Format PDF ● Pages 860 ● ISBN 9783540766988 ● Taille du fichier 15.5 MB ● Éditeur Nenad Blau & Marinus Duran ● Maison d’édition Springer Berlin ● Lieu Heidelberg ● Pays DE ● Publié 2008 ● Téléchargeable 24 mois ● Devise EUR ● ID 2163890 ● Protection contre la copie DRM sociale

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