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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Pubblicato in:Orphanet J Rare Dis
Autori principali: Gales, Ana, Masingue, Marion, Millecamps, Stephanie, Giraudier, Stephane, Grosliere, Laure, Adam, Claude, Salim, Claudio, Navarro, Vincent, Nadjar, Yann
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Review
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5796584/
https://ncbi.nlm.nih.gov/pubmed/29391032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0767-9
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