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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Your native tongue holds a special place in your brain, even if you speak 10 languages
This study “contributes to our understanding of how our brain learns new things,” says Augusto Buchweitz, a cognitive neuroscientist at the University of Connecticut, Storrs, who was not involved in the work. “The earlier you learn something, the more your brain [adapts] and probably uses less resources.” Scientists have largely ignored what’s going on inside the brains of polyglots—people who speak more than five languages—says Ev Fedorenko, a cognitive neuroscientist at the Massachusetts Institute of Technology who led the new study. “There’s oodles of work on individuals whose language systems are...
Source: Science of Aging Knowledge Environment - February 3, 2023 Category: Geriatrics Source Type: research