Blau / Duran / Gibson Laboratory Guide to the Methods in Biochemical Genetics
1. Auflage 2008
ISBN: 978-3-540-76698-8
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
E-Book, Englisch, 860 Seiten, Web PDF
Reihe: Medicine
ISBN: 978-3-540-76698-8
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
Zielgruppe
Professional/practitioner
Autoren/Hrsg.
Weitere Infos & Material
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.
