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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
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Citations

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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
ISBNs
978-3-64-240336-1, 978-3-64-240337-8, 978-3-66-250688-2
Editors

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

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 88 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 1 1%
Brazil 1 1%
Unknown 86 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 14 16%
Researcher 14 16%
Student > Master 13 15%
Student > Bachelor 13 15%
Other 6 7%
Other 14 16%
Unknown 14 16%
Readers by discipline Count As %
Medicine and Dentistry 24 27%
Agricultural and Biological Sciences 21 24%
Biochemistry, Genetics and Molecular Biology 13 15%
Nursing and Health Professions 4 5%
Pharmacology, Toxicology and Pharmaceutical Science 3 3%
Other 8 9%
Unknown 15 17%