Clinical and biochemical footprints of inherited metabolic diseases: I. Movement disorders
About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movem...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
26 March 2019
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| In: |
Molecular genetics and metabolism
Year: 2019, Volume: 127, Issue: 1, Pages: 28-30 |
| ISSN: | 1096-7206 |
| DOI: | 10.1016/j.ymgme.2019.03.007 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.ymgme.2019.03.007 Verlag: http://www.sciencedirect.com/science/article/pii/S109671921830739X 
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| Author Notes: | Carlos R. Ferreira, Georg F. Hoffmann, Nenad Blau |
| Summary: | About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. |
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| Item Description: | Gesehen am 03.03.2020 Available online 26 March 2019 |
| Physical Description: | Online Resource |
| ISSN: | 1096-7206 |
| DOI: | 10.1016/j.ymgme.2019.03.007 |