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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 Pediatrics
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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 Diagnostic Procedures
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    Chapter 4 Emergency Treatments
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    Chapter 5 The Glycogen Storage Diseases and Related Disorders
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    Chapter 6 Disorders of Galactose Metabolism
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    Chapter 7 Disorders of Glycolysis and the Pentose Phosphate Pathway
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    Chapter 8 Disorders of Fructose Metabolism
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    Chapter 9 Congenital Hyperinsulinism
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    Chapter 10 Disorders of Glucose Transport
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    Chapter 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
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    Chapter 12 Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism
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    Chapter 13 Disorders of Ketogenesis and Ketolysis
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    Chapter 14 Disorders of Oxidative Phosphorylation
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    Chapter 15 Creatine Deficiency Syndromes
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    Chapter 16 Hyperphenylalaninaemia
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    Chapter 17 Disorders of Tyrosine Metabolism
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    Chapter 18 Branched-chain Organic Acidurias/Acidaemias
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    Chapter 19 Disorders of the Urea Cycle and Related Enzymes
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    Chapter 20 Disorders of Sulfur Amino Acid Metabolism
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    Chapter 21 Disorders of Ornithine and Proline Metabolism
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    Chapter 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
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    Chapter 23 Nonketotic Hyperglycinemia (Glycine Encephalopathy) and Lipoate Deficiency Disorders
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    Chapter 24 Disorders of Glutamine, Serine and Asparagine Metabolism
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    Chapter 25 Disorders of Amino Acid Transport at the Cell Membrane
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    Chapter 26 Biotin-responsive Disorders
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    Chapter 27 Disorders of Cobalamin and Folate Transport and Metabolism
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    Chapter 28 Disorders of Thiamine and Pyridoxine Metabolism
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    Chapter 29 Disorders of Neurotransmission
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    Chapter 30 Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione
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    Chapter 31 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood
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    Chapter 32 Disorders of Isoprenoid/Cholesterol Synthesis
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    Chapter 33 Disorders of Bile Acid Synthesis
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    Chapter 34 Disorders of Intracellular Triglyceride and Phospholipid Metabolism
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    Chapter 35 Disorders of Purine and Pyrimidine Metabolism
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    Chapter 36 Disorders of Haem Biosynthesis
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    Chapter 37 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
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    Chapter 38 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
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    Chapter 39 Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders
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    Chapter 40 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
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    Chapter 41 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
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    Chapter 42 Cystinosis
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    Chapter 43 Medications Used in the Treatment of Inborn Errors
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Title
Inborn Metabolic Diseases
Published by
Springer, November 2016
DOI 10.1007/978-3-662-49771-5
ISBNs
978-3-66-249771-5, 978-3-66-249769-2
Editors

Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users 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 106 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 106 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 14%
Other 13 12%
Student > Bachelor 11 10%
Student > Ph. D. Student 10 9%
Student > Doctoral Student 9 8%
Other 17 16%
Unknown 31 29%
Readers by discipline Count As %
Medicine and Dentistry 30 28%
Biochemistry, Genetics and Molecular Biology 24 23%
Chemistry 4 4%
Pharmacology, Toxicology and Pharmaceutical Science 3 3%
Neuroscience 2 2%
Other 8 8%
Unknown 35 33%