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Laboratory Guide to the Methods in Biochemical Genetics

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Cover of 'Laboratory Guide to the Methods in Biochemical Genetics'

Table of Contents

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    Book Overview
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    Chapter 1 Laboratory Strategies in Biochemical Genetics
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    Chapter 2 Quality Control and Quality Assurance in the Biochemical Genetic Laboratory
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    Chapter 3 Simple Metabolic Screening Tests
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    Chapter 4 Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate
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    Chapter 5 Amino Acids
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    Chapter 6 Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine
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    Chapter 7 GABA, Homocarnosine, and β-Alanine
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    Chapter 8 Pipecolic Acid
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    Chapter 9 Organic Acids
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    Chapter 10 Acylcarnitines, Including In Vitro Loading Tests
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    Chapter 11 Plasmalogens and Polyunsaturated Fatty Acids
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    Chapter 12 Very-Long-Chain Fatty Acids and Phytanic Acid
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    Chapter 13 Oxalate, Glycolate, Glycerate, Sulfate, and Citrate
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    Chapter 14 Glycerol and Glycerol Phosphates
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    Chapter 15 Biotinidase
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    Chapter 16 Mitochondrial Respiratory Chain
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    Chapter 17 Mucopolysaccharides
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    Chapter 18 Oligosaccharides
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    Chapter 19 Sialic Acid
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    Chapter 20 Glycosphingolipids
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    Chapter 21 Congenital Disorders of Glycosylation
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    Chapter 22 Enzymes and Metabolites of Carbohydrate Metabolism
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    Chapter 23 Polyols
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    Chapter 24 Diagnosis of Inherited Defects of Cholesterol Biosynthesis
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    Chapter 25 Lipoproteins
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    Chapter 26 Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry
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    Chapter 27 Bile Acids
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    Chapter 28 Pterins and Related Enzymes
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    Chapter 29 Biogenic Amines
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    Chapter 30 Folates
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    Chapter 31 Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry
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    Chapter 32 Creatine and its Metabolites
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    Chapter 33 Porphyrins, Porphobilinogen, and δ-Aminolevulinic Acid
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    Chapter 34 Trimethylaminuria
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    Chapter 35 A Tandem Mass Spectrometry Primer for Metabolite Disease Detection
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    Chapter 36 Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders
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Title
Laboratory Guide to the Methods in Biochemical Genetics
Published by
Springer Berlin Heidelberg, May 2008
DOI 10.1007/978-3-540-76698-8
ISBNs
978-3-54-076697-1, 978-3-54-076698-8
Editors

Blau, Nenad, Duran, Marinius, Gibson, K. Michael

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 161 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Indonesia 1 <1%
Ireland 1 <1%
Brazil 1 <1%
South Africa 1 <1%
Iran, Islamic Republic of 1 <1%
Mexico 1 <1%
Unknown 155 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 31 19%
Researcher 25 16%
Student > Bachelor 18 11%
Student > Master 17 11%
Student > Doctoral Student 13 8%
Other 26 16%
Unknown 31 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 43 27%
Agricultural and Biological Sciences 27 17%
Medicine and Dentistry 17 11%
Chemistry 17 11%
Immunology and Microbiology 3 2%
Other 21 13%
Unknown 33 20%