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A Study of Srum Homocysteine Level in Ischaemic Stoke
CONCLUSION: The present study revealed that hyperhomocysteinemia appears to be an important risk factor for ischemic stroke. It is therefore important to use serum homocysteine as an important tool to investigate all cases of ischemic stroke and if serum homocysteine is elevated patient should be put on multivitamins containing vitamin B12, folic acid and pyridoxine to reduce serum homocysteine levels.PMID:35443421
Source: Atherosclerosis - April 21, 2022 Category: Cardiology Authors: Kaushik Paul Ramakrishna Mr 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