Laboratory Guide to the Methods in Biochemical Genetics

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Blau, Nenad (Επιμελητής έκδοσης), Duran, Marinius (Επιμελητής έκδοσης), Gibson, K. Michael (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg, 2008.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • 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.