Inherited Metabolic Diseases A Clinical Approach /
This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment pr...
| Συγγραφή απο Οργανισμό/Αρχή: | |
|---|---|
| Άλλοι συγγραφείς: | , , |
| Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
| Γλώσσα: | English |
| Έκδοση: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
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| Έκδοση: | 2nd ed. 2017. |
| Θέματα: | |
| Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism
- Mitochondriopathies Neurotransmitter Defects.-Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease
- Patient Care and Treatment
- Metabolic Emergencies
- Anesthesia and Metabolic Disease
- Principles of Dietary Therapy
- Principles of Enzyme Replacement Therapy
- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease
- Liver Disease
- Gastrointestinal and General Abdominal Symptoms
- Kidney Disease and Electrolyte Disturbances
- Neurological Disease
- Metabolic Myopathies
- Psychiatric Disease
- Eye Disorder
- Skin and Hair Disorders
- Bone Disorders
- Physical Abnormalities in Metabolic Diseases
- Hematological Disorders
- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening
- Biochemical Studies
- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases
- Molecular Investigations (DNA Studies)
- Pathology / Biopsy
- Postmortem Investigations
- Neuroimaging
- Function Tests
- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes
- Reference Books
- E3 Internet Resources.
