Laboratory Guide to the Methods in Biochemical Genetics
Springer Berlin
978-3-540-76697-1 (ISBN)
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Tis book, which is authore d by numerous authoritie p s,resent sas a stand-alone handbook for those working in the feld of human biochemica l genetics I .t is a far cry from the day when ther e were rathe r simple description o sf side room tests a , s Garrod calle d them. Garrod recognize d patient s in whom ther ewere disruption s of dynamic b- chemistry t , ha t is of pathway sa , s we now know them. He also recognize d tha t the disruptio n could be inherited h ;ence his descriptiv t eerm inborn error s of metab- lism . Garrod used his test sto revea l chemica l individualit ya ,theme tha t do- nated his writin g and thinkin g throughou h tis lifetim eG . arrod described chemical phenotype s as they were reveale d in his patient s with inborn error s of metabolism. Garrod s observation is ntroduce a d new paradigm in medica l thinking. Te range and sophisticatio o nf the methods used to describ e the chemica l p- st notype at the beginning of the 21 centur y are very diferen t from those tha t were th availab lt eo Garrod at the beginning of the 20 century T . is new book describe s a spectrum of tests f , rom simple screenin g methods tha t we could al l do, to analytical methods tha t are dependent on technologi e ts ha t very few of us wil l ever use. Behind the chemica l phenotype is a biochemica p lhenotype T . e latte d rescribes disorde r in a dynamic function a ;ny functio n tha t modifes a molecul e or moves it from here to there H . ow to measure a functio n tha t can be disrupte d by a mutant gene is an importan t part of this laborato r gy uide.
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.
| Sprache | englisch |
|---|---|
| Maße | 203 x 276 mm |
| Gewicht | 1865 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Schlagworte | Alanin • Amino acid • biosynthesis • enzymes • Genetics • Genetik • Genetik / Erblehre • Hardcover, Softcover / Medizin/Klinische Fächer • HC/Medizin/Klinische Fächer • Heritable disorders • Human biochemical genetics • Inborn errors of metabolisms • Laboratory • Mendelian disorders • metabolic disorder • Metabolic disorders • Metabolism • mitochondria • Oligosaccharid • Polysaccharid • Protein • proteins • Purine • Pyrimidine |
| ISBN-10 | 3-540-76697-9 / 3540766979 |
| ISBN-13 | 978-3-540-76697-1 / 9783540766971 |
| Zustand | Neuware |
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