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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Cover of 'Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases'

Table of Contents

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    Book Overview
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    Chapter 1 Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
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    Chapter 2 Tyrosine Metabolism
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    Chapter 3 Sulphur Amino Acids
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    Chapter 4 Hyperammonemias and Related Disorders
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    Chapter 5 Disorders of Glycine, Serine, GABA, and Proline Metabolism
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    Chapter 6 Amino Acid Transport Defects
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    Chapter 7 Disorders of Leucine, Isoleucine, and Valine Metabolism
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    Chapter 8 Cerebral Organic Acidurias
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    Chapter 9 Ethylmalonic Encephalopathy
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    Chapter 10 Disorders of Folate Metabolism and Transport
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    Chapter 11 Vitamin B6-Dependent and Responsive Disorders
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    Chapter 12 Molybdenum Cofactor Disorders
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    Chapter 13 Vitamin B12 Disorders
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    Chapter 14 Biotin Disorders
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    Chapter 15 Thiamine Disorders
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    Chapter 16 Riboflavin and CoQ Disorders
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    Chapter 17 Mitochondrial Fatty Acid Oxidation Disorders
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    Chapter 18 Disorders of Carbohydrate Metabolism and Glucose Transport
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    Chapter 19 Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency
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    Chapter 20 Disorders of the Krebs Cycle
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    Chapter 21 Hyperinsulinism
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    Chapter 22 Mitochondrial Oxidative Phosphorylation Disorders
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    Chapter 23 Disorders of Ketone Body Metabolism
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    Chapter 24 Peroxisomal Disorders
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    Chapter 25 Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
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    Chapter 26 Oligosaccharidoses and Sialic Acid Disorders
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    Chapter 27 The Mucopolysaccharidoses
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    Chapter 28 Hyperoxalurias
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    Chapter 29 Cystinosis
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    Chapter 30 Congenital Disorders of Glycosylation
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    Chapter 31 Neurotransmitter Disorders
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    Chapter 32 Creatine Disorders
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    Chapter 33 Heme Synthesis Defects and Porphyrias
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    Chapter 34 Disorders of Bile Acid Synthesis and Biliary Transport
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    Chapter 35 Disorders of Polyol Metabolism
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    Chapter 36 Cholesterol Synthesis Disorders
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    Chapter 37 Disorders of Adrenals and Gonads
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    Chapter 38 Leukotrienes
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    Chapter 39 Disorders of Copper and Zinc Metabolism
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    Chapter 40 Iron Metabolism Disorders
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    Chapter 41 Purine and Pyrimidine Disorders
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    Chapter 42 Disorders of Glutathione and γ-Glutamyl Cycle
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    Chapter 43 Disorders of Lipoprotein Metabolism
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    Chapter 44 Biochemical Phenotypes of Questionable Clinical Significance
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    Chapter 45 Emergency Diagnostic Procedures and Emergency Treatment
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    Chapter 46 Newborn Screening for Inborn Errors of Metabolism
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    Chapter 47 Genetic Counseling for Inborn Errors of Metabolism
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    Chapter 48 Simple Tests
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    Chapter 49 Amino Acids
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    Chapter 50 Organic Acids
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    Chapter 51 Acylcarnitines
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    Chapter 52 Lysosomals
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    Chapter 53 Proton NMR Spectroscopy of Body Fluids
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    Chapter 54 MRI and In Vivo Spectroscopy of the Brain
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    Chapter 55 SSIEM Classification of Inborn Errors of Metabolism
Attention for Chapter 33: Heme Synthesis Defects and Porphyrias
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Chapter title
Heme Synthesis Defects and Porphyrias
Chapter number 33
Book title
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Published by
Springer Berlin Heidelberg, January 2014
DOI 10.1007/978-3-642-40337-8_33
Book ISBNs
978-3-64-240336-1, 978-3-64-240337-8
Authors

Ulrich Stölzel, Thomas Stauch, Manfred O. Doss

Editors

Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici