Sinossi
This manual describes laboratory methodology for diagnosing inborn errors of metabolism. Each chapter is sufficiently detailed so as to be self-contained, thus enabling any individual to adopt the method in their own laboratory and obviating the need for additional methods of references. The book is unique in that it is the first of its kind to be published in the last 15 years, and individual chapters have been developed by experts in the field citing both established and 'cutting-edge' technology.
Thus, it is sufficiently up-to-date to be applicable to the field of inborn errors of metabolism for all readers and those interested in laboratory diagnosis.
Le informazioni nella sezione "Riassunto" possono far riferimento a edizioni diverse di questo titolo.
Contenuti
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.
Product Description
Book by Blau Nenad Duran Marinus Gibson K Michael
Le informazioni nella sezione "Su questo libro" possono far riferimento a edizioni diverse di questo titolo.
Risultati della ricerca per Laboratory Guide to the Methods in Biochemical Genetics
Immagini fornite dal venditore
Laboratory Guide to the Methods in Biochemical Genetics
Editore:
Springer-Verlag Publishing, 2008
ISBN 10: 3540766979
ISBN 13: 9783540766971
Antico o usato
Rilegato
Da: Salish Sea Books, Bellingham, WA, U.S.A.
Valutazione del venditore 5 su 5 stelle
Condizione: Good. ** CD is included & still sealed **; Good; Hardcover; Light overall wear to the covers with moderately "bumped" edge-corners; Unblemished textblock edges; There is a light 1" crease to the top right edge-corner of the first half of the book's pages (where that corner had been "bumped"), otherwise the endpapers and all text pages are clean and unmarked; The binding is excellent with a straight spine; This book will be shipped in a sturdy cardboard box with foam padding; Medium-Large Format (Quatro, 9.75" - 10.75" tall); Dark blue covers with title in white lettering; 2008, Springer-Verlag Publishing; 860 pages; "Laboratory Guide to the Methods in Biochemical Genetics," by Beat Thöny, et al. Codice articolo SKU-325AC03411201
Compra usato
EUR 312,83
Spedizione EUR 4,36
Spedito in U.S.A.
Spedito in U.S.A.
Quantitā: 1 disponibili