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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...

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Detalles Bibliográficos
Autores principales: Gales, Ana, Masingue, Marion, Millecamps, Stephanie, Giraudier, Stephane, Grosliere, Laure, Adam, Claude, Salim, Claudio, Navarro, Vincent, Nadjar, Yann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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