Movement disorders and inherited metabolic disorders: recognition, understanding, improving outcomes
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 significan...
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| Weitere Verfasser: | , |
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| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Cambridge
Cambridge University Press
2020
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| Schlagworte: | |
| Online-Zugang: | BSB01 FHN01 UBM01 URL des Erstveröffentlichers |
| Zusammenfassung: | 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 |
| Beschreibung: | 1 Online-Ressource (xiv, 427 Seiten) |
| ISBN: | 9781108556767 |
| DOI: | 10.1017/9781108556767 |
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| spelling | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes edited by Darius Ebrahimi-Fakhari, Phillip L. Pearl Cambridge Cambridge University Press 2020 1 Online-Ressource (xiv, 427 Seiten) txt rdacontent c rdamedia cr rdacarrier 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 Movement disorders Ebrahimi-Fakhari, Darius 1985- (DE-588)1037282000 edt Pearl, Phillip L. 1958- (DE-588)1219985287 edt Erscheint auch als Druck-Ausgabe 978-1-108-84002-6 https://doi.org/10.1017/9781108556767 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes Movement disorders |
| title | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes |
| title_auth | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes |
| title_exact_search | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes |
| title_exact_search_txtP | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes |
| title_full | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes edited by Darius Ebrahimi-Fakhari, Phillip L. Pearl |
| title_fullStr | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes edited by Darius Ebrahimi-Fakhari, Phillip L. Pearl |
| title_full_unstemmed | Movement disorders and inherited metabolic disorders recognition, understanding, improving outcomes edited by Darius Ebrahimi-Fakhari, Phillip L. Pearl |
| title_short | Movement disorders and inherited metabolic disorders |
| title_sort | movement disorders and inherited metabolic disorders recognition understanding improving outcomes |
| title_sub | recognition, understanding, improving outcomes |
| topic | Movement disorders |
| topic_facet | Movement disorders |
| url | https://doi.org/10.1017/9781108556767 |
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