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Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severity correlates with the degree of the enzyme activi...
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| Pubblicato in: | Mol Genet Metab Rep |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7479436/ https://ncbi.nlm.nih.gov/pubmed/32939339 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100644 |
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