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...
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| Otros Autores: | , , |
| Formato: | Libro electrónico |
| Idioma: | Inglés |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg
2017.
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| Edición: | 2nd ed |
| Colección: | Springer eBooks.
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| Acceso en línea: | Conectar con la versión electrónica |
| Ver en Universidad de Navarra: | https://innopac.unav.es/record=b35719400*spi |
Tabla de Contenidos:
- 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.
