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Evidence That Increasing Serum 25(OH)D Concentrations to 30 ng/mL in the Kingdom of Saudi Arabia and the United Arab Emirates Could Greatly Improve Health Outcomes
Biomedicines. 2023 Mar 23;11(4):994. doi: 10.3390/biomedicines11040994.ABSTRACTAccumulating evidence supports the potential protective effects of vitamin D against chronic diseases such as Alzheimer's disease, autoimmune diseases, cancers, cardiovascular disease (ischaemic heart disease and stroke), type 2 diabetes, hypertension, chronic kidney disease, stroke, and infectious diseases such as acute respiratory tract diseases, COVID-19, influenza, and pneumonia, as well as adverse pregnancy outcomes. The respective evidence is based on ecological and observational studies, randomized controlled trials, mechanistic studies, ...
Source: Cancer Control - May 16, 2023 Category: Cancer & Oncology Authors: William B Grant Fatme Al Anouti Barbara J Boucher Hana M A Fakhoury Meis Moukayed Stefan Pilz Nasser M Al-Daghri Source Type: research

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