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Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom pres...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711040/ https://www.ncbi.nlm.nih.gov/pubmed/26788335 http://dx.doi.org/10.1186/s40734-014-0009-9 |