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Laboratory Guide to the Methods in Biochemical Genetics

Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases. The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical method...

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Furkejuvvon:
Bibliográfalaš dieđut
Searvvušdahkki: SpringerLink (Online service)
Eará dahkkit: Blau, Nenad (Doaimmaheaddji), Vaz, Frédéric M. (Doaimmaheaddji)
Materiálatiipa: Elektrovnnalaš E-girji
Giella:eaŋgalasgiella
Almmustuhtton: Cham : Springer International Publishing : Imprint: Springer, 2024.
Preanttus:2nd ed. 2024.
Fáttát:
Medical genetics.
Clinical biochemistry.
Metabolism > Disorders.
Biochemistry.
Medicine > Research.
Biology > Research.
Medical Genetics.
Medical Biochemistry.
Metabolic Disease.
Biomedical Research.
Liŋkkat:https://doi.org/10.1007/978-3-031-58819-8
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Sisdoallologahallan:
  • 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 andRelated 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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