↓ Skip to main content

Inborn Metabolic Diseases

Overview of attention for book
Cover of 'Inborn Metabolic Diseases'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 1 A Clinical Approach to Inherited Metabolic Diseases
  3. Altmetric Badge
    Chapter 2 Newborn Screening for Inborn Errors of Metabolism
  4. Altmetric Badge
    Chapter 3 Diagnostic Procedures: Function Tests and Postmortem Protocol
  5. Altmetric Badge
    Chapter 4 Emergency Treatments
  6. Altmetric Badge
    Chapter 5 Treatment: Present Status and New Trends
  7. Altmetric Badge
    Chapter 6 The Glycogen Storage Diseases and Related Disorders
  8. Altmetric Badge
    Chapter 7 Disorders of Galactose Metabolism
  9. Altmetric Badge
    Chapter 8 Disorders of the Pentose Phosphate Pathway
  10. Altmetric Badge
    Chapter 9 Disorders of Fructose Metabolism
  11. Altmetric Badge
    Chapter 10 Persistent Hyperinsulinemic Hypoglycemia
  12. Altmetric Badge
    Chapter 11 Disorders of Glucose Transport
  13. Altmetric Badge
    Chapter 12 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
  14. Altmetric Badge
    Chapter 13 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
  15. Altmetric Badge
    Chapter 14 Disorders of Ketogenesis and Ketolysis
  16. Altmetric Badge
    Chapter 15 Defects of the Respiratory Chain
  17. Altmetric Badge
    Chapter 16 Creatine Deficiency Syndromes
  18. Altmetric Badge
    Chapter 17 Hyperphenylalaninaemia
  19. Altmetric Badge
    Chapter 18 Disorders of Tyrosine Metabolism
  20. Altmetric Badge
    Chapter 19 Branched-Chain Organic Acidurias/Acidemias
  21. Altmetric Badge
    Chapter 20 Disorders of the Urea Cycle and Related Enzymes
  22. Altmetric Badge
    Chapter 21 Disorders of Sulfur Amino Acid Metabolism
  23. Altmetric Badge
    Chapter 22 Disorders of Ornithine Metabolism
  24. Altmetric Badge
    Chapter 23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
  25. Altmetric Badge
    Chapter 24 Nonketotic Hyperglycinemia (Glycine Encephalopathy)
  26. Altmetric Badge
    Chapter 25 Disorders of Proline and Serine Metabolism
  27. Altmetric Badge
    Chapter 26 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
  28. Altmetric Badge
    Chapter 27 Biotin-Responsive Disorders
  29. Altmetric Badge
    Chapter 28 Disorders of Cobalamin and Folate Transport and Metabolism
  30. Altmetric Badge
    Chapter 29 Disorders of Neurotransmission
  31. Altmetric Badge
    Chapter 30 Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
  32. Altmetric Badge
    Chapter 31 Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
  33. Altmetric Badge
    Chapter 32 Dyslipidemias
  34. Altmetric Badge
    Chapter 33 Disorders of Cholesterol Synthesis
  35. Altmetric Badge
    Chapter 34 Disorders of Bile Acid Synthesis
  36. Altmetric Badge
    Chapter 35 Disorders of Purine and Pyrimidine Metabolism
  37. Altmetric Badge
    Chapter 36 Disorders of Heme Biosynthesis
  38. Altmetric Badge
    Chapter 37 Disorders in the Transport of Copper, Zinc and Magnesium
  39. Altmetric Badge
    Chapter 38 Disorders of Sphingolipid Metabolism
  40. Altmetric Badge
    Chapter 39 Mucopolysaccharidoses and Oligosaccharidoses
  41. Altmetric Badge
    Chapter 40 Peroxisomal Disorders
  42. Altmetric Badge
    Chapter 41 Congenital Disorders of Glycosylation
  43. Altmetric Badge
    Chapter 42 Cystinosis
  44. Altmetric Badge
    Chapter 43 Primary Hyperoxalurias
Overall attention for this book and its chapters
Altmetric Badge

Mentioned by

twitter
1 X user
wikipedia
13 Wikipedia pages

Citations

dimensions_citation
151 Dimensions

Readers on

mendeley
19 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Inborn Metabolic Diseases
Published by
Springer-Verlag Berlin Heidelberg, January 2006
DOI 10.1007/978-3-540-28785-8
ISBNs
978-3-54-028783-4, 978-3-54-028785-8
Editors

John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, John H. Walter

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user 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 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 21%
Student > Master 3 16%
Professor 2 11%
Student > Bachelor 2 11%
Researcher 2 11%
Other 0 0%
Unknown 6 32%
Readers by discipline Count As %
Medicine and Dentistry 6 32%
Biochemistry, Genetics and Molecular Biology 3 16%
Agricultural and Biological Sciences 2 11%
Pharmacology, Toxicology and Pharmaceutical Science 1 5%
Unknown 7 37%