Neurological Manifestations of MTHFR-related Hyperhomocysteinemia
| العنوان: | Neurological Manifestations of MTHFR-related Hyperhomocysteinemia |
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| المؤلفون: | Minsung Kang, June Woo Ahn, Sohyeon Kim, Hung Youl Seok, Jin-Sung Park |
| المصدر: | Journal of the Korean Neurological Association. 41:68-72 |
| بيانات النشر: | Korean Neurological Association, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | General Medicine |
| الوصف: | Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes. |
| تدمد: | 2288-985X 1225-7044 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::437310489b2245f34ab105319b4446c7 https://doi.org/10.17340/jkna.2023.1.13 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....437310489b2245f34ab105319b4446c7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2288985X 12257044 |
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