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Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombos...
Autores principales: | Gales, Ana, Masingue, Marion, Millecamps, Stephanie, Giraudier, Stephane, Grosliere, Laure, Adam, Claude, Salim, Claudio, Navarro, Vincent, Nadjar, Yann |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796584/ https://www.ncbi.nlm.nih.gov/pubmed/29391032 http://dx.doi.org/10.1186/s13023-018-0767-9 |
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