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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
Attention for Chapter 22: Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
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Chapter title
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Chapter number 22
Book title
Inborn Metabolic Diseases
Published by
Springer, Berlin, Heidelberg, January 2016
DOI 10.1007/978-3-662-49771-5_22
Book ISBNs
978-3-66-249769-2, 978-3-66-249771-5
Authors

Georg F. Hoffmann, Stefan Kölker, Hoffmann, Georg F., Kölker, Stefan

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 4 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 4 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 1 25%
Other 1 25%
Student > Doctoral Student 1 25%
Unknown 1 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 50%
Agricultural and Biological Sciences 1 25%
Unknown 1 25%