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Beschreibung
Bridges the expertise gap between genetic-metabolic medicine and movement disorder neurology to increase early recognition of inherited metabolic movement disorders.
Bridges the expertise gap between genetic-metabolic medicine and movement disorder neurology to increase early recognition of inherited metabolic movement disorders.
Inhaltsverzeichnis
Section I. General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders: 1. Treatable Metabolic Movement Disorders: the Top 10; 2. The Importance of Movement Disorders in Inborn Errors of Metabolism; 3. The Importance of Inborn Errors of Metabolism for Movement Disorders; 4. Imaging in Metabolic Movement Disorders; 5. Biochemical Testing for Metabolic Movement Disorders; 6. Genetic Testing for Metabolic Movement Disorders; 7. A Phenomenology-Based approach to inborn errors of metabolism with Ataxia; 8. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia; 9. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism; 10. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Spasticity; 11. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus; Section II. A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders: 12. Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic Acidurias, and Urea Cycle Disorders with Movement Disorders; 13. Disorders of Energy Metabolism: Glut1 Deficiency Syndrome and Movement Disorders; 14. Lysosomal Storage Disorders: Niemann-Pick Disease Type C and Movement Disorders; 15. Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders; 16. Syndromes of Neurodegeneration with Brain Iron Accumulation; 17. Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders; 18. Metal Storage Disorders: Primary Familial brain Calcification and Movement Disorders; 19. Disorders of Glycosylation and Movement Disorders; 20. Disorders of Post-translational Modifications / Degradation: Disorders of Autophagy and Movement Disorders; 21. Neurotransmitter Disorders: Disorders of Dopamine Metabolism and Movement Disorders; 22. Disorders of GABA Metabolism and Movement Disorders; 23. DNAJC12-deficient Hyperphenylalaninemia - An Emerging Neurotransmitter Disorder; 24. Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders; 25. Vitamin-Responsive Disorders: Biotin-Thiamin Responsive Basal Ganglia Disease and Movement Disorders; 26. Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders; 27. Purine Metabolism Defects: the Movement Disorder of Lesch-Nyhan Disease; 28. Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders; 29. Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism; Section III. Conclusions and Future Directions: 30. Metabolic Movement Disorders in the Era of Next-Generation Sequencing; 31. Deep Brain Stimulation for Metabolic Movement Disorders; 32. Novel Therapeutic Approaches to Metabolic Movement Disorders; Closing Remarks: A Clinical approach to Inherited Metabolic Movement Disorders.
Details
Erscheinungsjahr: | 2020 |
---|---|
Fachbereich: | Andere Fachgebiete |
Genre: | Importe, Medizin |
Rubrik: | Wissenschaften |
Medium: | Taschenbuch |
Inhalt: | Kartoniert / Broschiert |
ISBN-13: | 9781108556743 |
ISBN-10: | 1108556744 |
Sprache: | Englisch |
Einband: | Kartoniert / Broschiert |
Redaktion: |
Ebrahimi-Fakhari, Darius
Pearl, Phillip L |
Hersteller: | Cambridge University Press |
Verantwortliche Person für die EU: | Libri GmbH, Europaallee 1, D-36244 Bad Hersfeld, gpsr@libri.de |
Maße: | 251 x 198 x 25 mm |
Von/Mit: | Darius Ebrahimi-Fakhari (u. a.) |
Erscheinungsdatum: | 01.10.2020 |
Gewicht: | 1,076 kg |
Inhaltsverzeichnis
Section I. General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders: 1. Treatable Metabolic Movement Disorders: the Top 10; 2. The Importance of Movement Disorders in Inborn Errors of Metabolism; 3. The Importance of Inborn Errors of Metabolism for Movement Disorders; 4. Imaging in Metabolic Movement Disorders; 5. Biochemical Testing for Metabolic Movement Disorders; 6. Genetic Testing for Metabolic Movement Disorders; 7. A Phenomenology-Based approach to inborn errors of metabolism with Ataxia; 8. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Dystonia; 9. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism; 10. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Spasticity; 11. A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus; Section II. A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders: 12. Disorders of Amino Acid Metabolism: Amino Acid Disorders, Organic Acidurias, and Urea Cycle Disorders with Movement Disorders; 13. Disorders of Energy Metabolism: Glut1 Deficiency Syndrome and Movement Disorders; 14. Lysosomal Storage Disorders: Niemann-Pick Disease Type C and Movement Disorders; 15. Lysosomal Storage Disorders: Neuronal Ceroid Lipofuscinoses and Movement Disorders; 16. Syndromes of Neurodegeneration with Brain Iron Accumulation; 17. Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders; 18. Metal Storage Disorders: Primary Familial brain Calcification and Movement Disorders; 19. Disorders of Glycosylation and Movement Disorders; 20. Disorders of Post-translational Modifications / Degradation: Disorders of Autophagy and Movement Disorders; 21. Neurotransmitter Disorders: Disorders of Dopamine Metabolism and Movement Disorders; 22. Disorders of GABA Metabolism and Movement Disorders; 23. DNAJC12-deficient Hyperphenylalaninemia - An Emerging Neurotransmitter Disorder; 24. Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders; 25. Vitamin-Responsive Disorders: Biotin-Thiamin Responsive Basal Ganglia Disease and Movement Disorders; 26. Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders; 27. Purine Metabolism Defects: the Movement Disorder of Lesch-Nyhan Disease; 28. Disorders of Creatine Metabolism: Creatine Deficiency Syndromes and Movement Disorders; 29. Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism; Section III. Conclusions and Future Directions: 30. Metabolic Movement Disorders in the Era of Next-Generation Sequencing; 31. Deep Brain Stimulation for Metabolic Movement Disorders; 32. Novel Therapeutic Approaches to Metabolic Movement Disorders; Closing Remarks: A Clinical approach to Inherited Metabolic Movement Disorders.
Details
Erscheinungsjahr: | 2020 |
---|---|
Fachbereich: | Andere Fachgebiete |
Genre: | Importe, Medizin |
Rubrik: | Wissenschaften |
Medium: | Taschenbuch |
Inhalt: | Kartoniert / Broschiert |
ISBN-13: | 9781108556743 |
ISBN-10: | 1108556744 |
Sprache: | Englisch |
Einband: | Kartoniert / Broschiert |
Redaktion: |
Ebrahimi-Fakhari, Darius
Pearl, Phillip L |
Hersteller: | Cambridge University Press |
Verantwortliche Person für die EU: | Libri GmbH, Europaallee 1, D-36244 Bad Hersfeld, gpsr@libri.de |
Maße: | 251 x 198 x 25 mm |
Von/Mit: | Darius Ebrahimi-Fakhari (u. a.) |
Erscheinungsdatum: | 01.10.2020 |
Gewicht: | 1,076 kg |
Sicherheitshinweis