Laboratory guide to the methods in biochemical genetics

Laboratory guide to the methods in biochemical genetics / [edited by] Nenad Blau, Marinus Duran, K. Michael Gibson ; foreword by C.R. Scriver.

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory. This enables the manual to be both comprehens...

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Bibliographic Details
Other Authors: Blau, N. (Nenad), 1946-, Duran, Marinus, Gibson, Kenneth Michael, 1955-
Format: eBook
Language:English
Published: Berlin : Springer, ©2008.
Subjects:
Metabolism, Inborn errors of > Diagnosis > Laboratory manuals.
Biochemical genetics > Laboratory manuals.
Metabolism, Inborn errors of.
MEDICAL > Endocrinology & Metabolism.
MEDICAL > Nutrition.
Metabolism, Inborn errors of
Biochemical genetics
Metabolism, Inborn errors of > Diagnosis
Laboratory manuals
Laboratory manuals.
Manuels de laboratoire.
Online Access:Click for online access
Table of Contents:
  • 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 ß-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 ChainMucopolysaccharides; 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.

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