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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 Treatment: Present Status and New Trends
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    Chapter 6 The Glycogen-Storage Diseases
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    Chapter 7 Disorders of Galactose Metabolism
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    Chapter 8 Disorders of Fructose Metabolism
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    Chapter 9 Persistent Hyperinsulinemic Hypoglycemia
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    Chapter 10 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
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    Chapter 11 Disorders of Fatty Acid Oxidation
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    Chapter 12 Disorders of Ketogenesis and Ketolysis
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    Chapter 13 Defects of the Respiratory Chain
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    Chapter 14 The Hyperphenylalaninaemias
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    Chapter 15 Disorders of Tyrosine Metabolism
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    Chapter 16 Branched-Chain Organic Acidurias
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    Chapter 17 Disorders of the Urea Cycle
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    Chapter 18 Disorders of Sulfur Amino Acid Metabolism
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    Chapter 18 Disorders of Sulfur Amino Acid Metabolism
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    Chapter 19 Disorders of Ornithine and Creatine Metabolism
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    Chapter 20 Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders
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    Chapter 21 Nonketotic Hyperglycinemia
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    Chapter 22 Disorders of Proline and Serine Metabolism
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    Chapter 23 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance
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    Chapter 24 Biotin-Responsive Multiple Carboxylase Deficiency
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    Chapter 25 Disorders of Cobalamin and Folate Transport and Metabolism
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    Chapter 26 Disorders of Neurotransmission
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    Chapter 27 Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
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    Chapter 28 Dyslipidemias
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    Chapter 29 Disorders of Cholesterol Synthesis
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    Chapter 30 Disorders of Bile Acid Synthesis
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    Chapter 31 Disorders of Purine and Pyrimidine Metabolism
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    Chapter 32 The Porphyrias
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    Chapter 33 Copper Transport Disorders: Wilson Disease and Menkes Disease
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    Chapter 34 Genetic Defects Related to Metals Other Than Copper
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    Chapter 35 Disorders of Sphingolipid Metabolism
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    Chapter 36 Mucopolysaccharidoses and Oligosaccharidoses
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    Chapter 37 Peroxisomal Disorders
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    Chapter 38 Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis
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    Chapter 39 Cystinosis
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    Chapter 40 Primary Hyperoxalurias
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    Chapter 41 Leukotriene C4-Synthesis Deficiency
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Title
Inborn Metabolic Diseases
Published by
Springer Berlin Heidelberg, January 2000
DOI 10.1007/978-3-662-04285-4
ISBNs
978-3-66-204287-8, 978-3-66-204285-4
Editors

Dr. John Fernandes, Professor Jean-Marie Saudubray, Professor Georges Van den Berghe

Mendeley readers

The data shown below were compiled from readership statistics for 2 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 2 100%

Demographic breakdown

Readers by professional status Count As %
Professor 1 50%
Student > Master 1 50%
Readers by discipline Count As %
Medicine and Dentistry 2 100%