1 option
Laboratory guide to the methods in biochemical genetics / [edited by] Nenad Blau, Marinus Duran, K. Michael Gibson ; foreword by C.R. Scriver.
- Format:
- Book
- Language:
- English
- Subjects (All):
- Metabolism, Inborn errors of--Diagnosis--Laboratory manuals.
- Metabolism, Inborn errors of.
- Biochemical genetics--Laboratory manuals.
- Biochemical genetics.
- Physical Description:
- 1 online resource (882 p.)
- Edition:
- 1st ed. 2008.
- Place of Publication:
- Berlin ; London : Springer, c2008.
- Language Note:
- English
- Summary:
- Suitable for those interested in laboratory diagnosis, this book describes laboratory methodology for diagnosing inborn errors of metabolism.
- 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.
- Notes:
- Description based upon print version of record.
- Includes bibliographical references and index.
- ISBN:
- 1-281-49242-6
- 9786611492427
- 3-540-76698-7
- OCLC:
- 272298711
The Penn Libraries is committed to describing library materials using current, accurate, and responsible language. If you discover outdated or inaccurate language, please fill out this feedback form to report it and suggest alternative language.