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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...
Tallennettuna:
| Julkaisussa: | J Clin Mov Disord |
|---|---|
| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4711040/ https://ncbi.nlm.nih.gov/pubmed/26788335 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40734-014-0009-9 |
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