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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 Inherited Metabolic Diseases
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    Chapter 2 Diagnostic Procedures: Function Tests and Postmortem Protocol
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    Chapter 3 Emergency Treatments
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    Chapter 4 Psychosocial Care of the Child and Family
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    Chapter 5 Glycogen Storage Diseases
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    Chapter 6 Disorders of Galactose Metabolism
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    Chapter 7 Disorders of Fructose Metabolism
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    Chapter 8 Disorders of Gluconeogenesis
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    Chapter 9 The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle
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    Chapter 10 The Respiratory Chain
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    Chapter 11 Disorders of Fatty Acid Oxidation
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    Chapter 12 Hyperphenylalaninaemias
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    Chapter 13 Tyrosine
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    Chapter 14 Urea Cycle Disorders
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    Chapter 15 Homocystinuria Due to Cystathionine β -Synthase Deficiency and Related Disorders
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    Chapter 16 Ornithine
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    Chapter 17 Nonketotic Hyperglycinemia
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    Chapter 18 Disorders of the Gamma Glutamyl Cycle
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    Chapter 19 Disorders of Small Peptides
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    Chapter 20 Branched-Chain Organic Acidurias
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    Chapter 21 Ketolysis Defects
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    Chapter 22 Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders
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    Chapter 23 Biotin-Responsive Multiple Carboxylase Deficiency
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    Chapter 24 Inherited Disorders of Cobalamin and Folate Absorption and Metabolism
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    Chapter 25 Dyslipidemias
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    Chapter 26 Disorders of Purine and Pyrimidine Metabolism
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    Chapter 27 Disorders of Neurotransmitters
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    Chapter 28 Copper: Wilson and Menkes Diseases
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    Chapter 29 Genetic Defects Related to Metals Other Than Copper
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    Chapter 30 Porphyrias
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    Chapter 31 Inborn Errors of Bile Acid Synthesis
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    Chapter 32 Bilirubin
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    Chapter 33 Alpha-1-Antitrypsin Deficiency
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    Chapter 34 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance
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    Chapter 35 Sphingolipids
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    Chapter 36 Mucopolysaccharides and Oligosaccharides
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    Chapter 37 Cystinosis
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    Chapter 38 Carbohydrate-Deficient Glycoprotein Syndromes
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    Chapter 39 Peroxisomal Disorders
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    Chapter 40 Oxalosis (Primary Hyperoxaluria)
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    Chapter 41 Liver Transplantation
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    Chapter 42 Bone Marrow Transplantation
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    Chapter 43 Somatic Gene Therapy
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Title
Inborn Metabolic Diseases
Published by
Springer Berlin Heidelberg, March 2013
DOI 10.1007/978-3-662-03147-6
ISBNs
978-3-66-203149-0, 978-3-66-203147-6
Editors

Fernandes, John, Saudubray, Jean-Marie, Berghe, Georges, Tada, K., Buist, N. R. M.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 1 33%
Unknown 2 67%
Readers by discipline Count As %
Nursing and Health Professions 1 33%
Psychology 1 33%
Unknown 1 33%