| Description |
1 online resource (xxvi, 860 pages) : illustrations |
| 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 |
| Summary |
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 comprehensive and complete, and there is no need for the reader to seek out additional manuals, references, etc., for the method since all details are included. In addition, the book is unique in being the first of its kind in the last 15 years, and it is sufficiently up-to-date to be applicable in the field for all users |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Metabolism, Inborn errors of -- Diagnosis -- Laboratory manuals
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Biochemical genetics -- Laboratory manuals
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Metabolism, Inborn errors of.
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Metabolism, Inborn Errors -- diagnosis
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Metabolism, Inborn Errors
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Molecular Biology
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Molecular Biology -- methods
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MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
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Metabolism, Inborn errors of
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Biochemical genetics
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Metabolism, Inborn errors of -- Diagnosis
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| Genre/Form |
Laboratory manuals
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Laboratory manuals.
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Manuels de laboratoire.
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| Form |
Electronic book
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| Author |
Blau, N. (Nenad), 1946-
|
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Duran, Marinus.
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Gibson, Kenneth Michael, 1955-
|
| LC no. |
2008925138 |
| ISBN |
9783540766988 |
|
3540766987 |
|
1281492426 |
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9781281492425 |
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