Laboratory Guide to the Methods in Biochemical Genetics
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| Other Authors: | , , |
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Berlin, Heidelberg :
Springer Berlin Heidelberg,
2008.
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| Subjects: | |
| Online Access: | Full Text via HEAL-Link |
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 ?-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.
