Hoffmann, Georg F.
Inherited Metabolic Diseases
Part I. Introduction to Inborn Errors of Metabolism
1. Disorders of Intermediary Metabolism
Johannes Zschocke
2. Disorders of the Biosynthesis and Breakdown of Complex Molecules
Johannes Zschocke
3. Neurotransmitter Defects and Related Disorders
Georg F. Hoffmann
Part II. Approach to the Patient
4. When to Suspect Metabolic Disease
William L. Nyhan
5. Patient Care and Treatment
William L. Nyhan, Georg F. Hoffmann
6. Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases
Georg F. Hoffmann
7. Structured Communication and Behavioural Medicine
Peter Burgard
8. Guidelines and Follow-Up
Stefan Kölker
9. Patient and Family Associations
Steve Hannigan
10. Adolescence, Emerging Adulthood, and Problems of Transition
Ursula Plöckinger
11. Pregnancy and Maternal Care
Elaine Murphy
12. Metabolic Emergencies
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
13. Workup of the Patient with Metabolic Acidosis and Massive Ketosis
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
14. Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
15. Work-Up of the Patient with Hypoglycemia
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
16. Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
17. Work-Up of the Patient with Hyperammonemia
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
18. Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
19. Emergency Treatment of Inherited Metabolic Diseases
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
20. Anesthesia and Metabolic Disease
William L. Nyhan
21. Principles of Dietary Management
Anita MacDonald
22. Gene and Cell Therapy for Inborn Errors of Metabolism
Cary O. Harding
Part III. Organ Systems in Metabolic Disease
23. Approach to the Patient with Cardiovascular Disease
Joachim Kreuder, Stephen G. Kahler
24. Liver Disease
Georg F. Hoffmann, Patrick McKiernan
25. Gastrointestinal and General Abdominal Symptoms
Stephen G. Kahler
26. Kidney Disease and Electrolyte Disturbances
William L. Nyhan
27. Neurological Disease
Angels García-Cazorla, Nicole I. Wolf, Fanny Mochel, Georg F. Hoffmann
28. Metabolic Myopathies
Stephen G. Kahler
29. Psychiatric Disease
Ertan Mayatepek
30. Eye Disorders
Alberto Burlina, Andrea Celato, Alessandro P. Burlina
31. Skin and Hair Disorders
Diego Martinelli, Maya Hachem, Enrico Bertini, Carlo Dionisi-Vici
32. The Bone in Genetic and Metabolic Diseases: A Practical Approach
Andrea Superti-Furga, Luisa Bonafé, Sheila Unger
33. Physical Abnormalities in Metabolic Diseases
Ute Moog, Johannes Zschocke, Stephanie Grünewald
34. Hematological Disorders
Ellen Crushell, Joe T. R. Clarke
35. Immunological Problems
Ertan Mayatepek
Part IV. Investigations for Metabolic Diseases
36. Newborn Screening for Inherited Metabolic Disease
Dietrich Matern, Piero Rinaldo
37. Biochemical Studies
Miao He, K. Michael Gibson
38. Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders
Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. T. Rodenburg
39. Molecular Genetic Analyses
Johannes Zschocke
40. Family Issues, Carrier Tests and Prenatal Diagnosis
Johannes Zschocke
41. Function Tests
Johannes Zschocke, Stefan Kölker
42. Diagnostic Workup of Patients with Mitochondrial Diseases
Shamima Rahman, Nicole I. Wolf
43. Pathology: Biopsy
Josefine Radke, Werner Stenzel, Hans H. Goebel
44. Postmortem Investigations
Piero Rinaldo
45. Neuroradiology
Inga Harting, Nicole I. Wolf
Avainsanat: Medicine & Public Health, Pediatrics, Internal Medicine, General Practice / Family Medicine, Neurology, Pathology, Human Genetics
- Toimittaja
- Hoffmann, Georg F.
- Nyhan, William L.
- Zschocke, Johannes
- Julkaisija
- Springer
- Julkaisuvuosi
- 2017
- Kieli
- en
- Painos
- 2nd ed. 2017
- Sivumäärä
- 17 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783662494103
- Painetun ISBN
- 978-3-662-49408-0