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Movement Disorders and Inherited Metabolic Disorders: Recognitio
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Características del artículo
- Estado
- Title
- Movement Disorders and Inherited Metabolic Disorders: Recognitio
- ISBN
- 9781108556743
Acerca de este producto
Product Identifiers
Publisher
Cambridge University Press
ISBN-10
1108556744
ISBN-13
9781108556743
eBay Product ID (ePID)
18050092318
Product Key Features
Number of Pages
440 Pages
Language
English
Publication Name
Movement Disorders and Inherited Metabolic Disorders : Recognition, Understanding, Improving Outcomes
Subject
Neurology, Internal Medicine
Publication Year
2020
Features
New Edition
Type
Textbook
Subject Area
Medical
Format
Hardcover / eBook
Dimensions
Item Height
1 in
Item Weight
67.2 Oz
Item Length
9.9 in
Item Width
7.7 in
Additional Product Features
Intended Audience
Scholarly & Professional
Dewey Edition
23
Number of Volumes
1 vol.
Illustrated
Yes
Dewey Decimal
616.83
Edition Description
New Edition
Table Of Content
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.
Synopsis
Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective., Bridges the expertise gap between genetic-metabolic medicine and movement disorder neurology to increase early recognition of inherited metabolic movement disorders., Combines genetic-metabolic medicine and movement disorder neurology to increase understanding and early recognition of inherited metabolic movement disorders. Topics include disorders of amino acids, energy metabolism and post-translational modification, as well as next-generation genetic sequencing and novel therapeutic approaches.
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- a***h (70)- Votos emitidos por el comprador.Últimos 6 mesesCompra verificadaBook arrived as described, packed inside a cardboard envelope which I like because it protects the corners from damage in transit. Great price and arrived ahead of the estimated delivery date. I value book sellers who package this way to ensure the books arrive safely, will bookmark you guys for future book purchases.
- c***c (226)- Votos emitidos por el comprador.Últimos 6 mesesCompra verificadaMy book arrived in good condition. Packaging was a rigid cardboard mailer, and it protected my book well. It was shipped in a reasonable amount of time, but I was still prompted to reach out to inquire further about it. Seller communication was very good, answering me within 24-hours. I was told shipping can take 9-15 days to happen... it arrived within 10 days after purchase. I would purchase from this seller again. Two thumbs up!