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Inborn Metabolic Diseases

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Cover of 'Inborn Metabolic Diseases'

Table of Contents

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    Book Overview
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    Chapter 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics
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    Chapter 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
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    Chapter 3 Newborn Screening for Inborn Errors of Metabolism
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    Chapter 4 Diagnostic Procedures: Functional Tests and Post-mortem Protocol
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    Chapter 5 Emergency Treatments
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    Chapter 6 The Glycogen Storage Diseases and Related Disorders
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    Chapter 7 Disorders of Galactose Metabolism
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    Chapter 8 Disorders of the Pentose Phosphate Pathway
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    Chapter 9 Disorders of Fructose Metabolism
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    Chapter 10 Persistent Hyperinsulinaemic Hypoglycaemia
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    Chapter 11 Disorders of Glucose Transport
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    Chapter 12 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
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    Chapter 13 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
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    Chapter 14 Disorders of Ketogenesis and Ketolysis
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    Chapter 15 Defects of the Respiratory Chain
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    Chapter 16 Creatine Deficiency Syndromes
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    Chapter 17 Hyperphenylalaninaemia
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    Chapter 18 Disorders of Tyrosine Metabolism
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    Chapter 19 Branched-chain Organic Acidurias/Acidaemias
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    Chapter 20 Disorders of the Urea Cycle and Related Enzymes
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    Chapter 21 Disorders of Sulfur Amino Acid Metabolism
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    Chapter 22 Disorders of Ornithine Metabolism
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    Chapter 23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
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    Chapter 24 Nonketotic Hyperglycinaemia (Glycine Encephalopathy)
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    Chapter 25 Disorders of Proline and Serine Metabolism
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    Chapter 26 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
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    Chapter 27 Biotin-responsive Disorders
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    Chapter 28 Disorders of Cobalamin and Folate Transport and Metabolism
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    Chapter 29 Disorders of Neurotransmission
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    Chapter 30 Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
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    Chapter 31 Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
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    Chapter 32 Dyslipidaemias
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    Chapter 33 Disorders of Cholesterol Synthesis
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    Chapter 34 Disorders of Bile Acid Synthesis
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    Chapter 35 Disorders of Phospholipid and Glycosphingolipid Synthesis
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    Chapter 36 Disorders of Purine and Pyrimidine Metabolism
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    Chapter 37 Disorders of Haem Biosynthesis
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    Chapter 38 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
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    Chapter 39 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses
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    Chapter 40 Mucopolysaccharidoses and Oligosaccharidoses
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    Chapter 41 Peroxisomal Disorders
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    Chapter 42 Congenital Disorders of Glycosylation
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    Chapter 43 Cystinosis
Attention for Chapter 34: Disorders of Bile Acid Synthesis
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Citations

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Chapter title
Disorders of Bile Acid Synthesis
Chapter number 34
Book title
Inborn Metabolic Diseases
Published by
Springer, Berlin, Heidelberg, January 2012
DOI 10.1007/978-3-642-15720-2_34
Book ISBNs
978-3-64-215719-6, 978-3-64-215720-2
Authors

Peter T. Clayton, Clayton, Peter T.

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 4%
Netherlands 1 4%
South Africa 1 4%
Unknown 21 88%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 17%
Lecturer > Senior Lecturer 3 13%
Student > Master 3 13%
Other 2 8%
Lecturer 2 8%
Other 5 21%
Unknown 5 21%
Readers by discipline Count As %
Medicine and Dentistry 10 42%
Chemistry 3 13%
Agricultural and Biological Sciences 2 8%
Veterinary Science and Veterinary Medicine 1 4%
Environmental Science 1 4%
Other 2 8%
Unknown 5 21%