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pro vyhledávání: '"Eemeli Saastamoinen"'
Autor:
Jonna Komulainen-Ebrahim, Heli Helander, Elisa Rahikkala, Leila Risteli, Reetta Hinttala, Johanna Uusimaa, Heikki Rantala, Eemeli Saastamoinen
Publikováno v:
Neuropediatrics. 48(6)
Background Methionine synthase deficiency is a rare inborn error of intracellular cobalamin metabolism caused by mutations in the MTR (5-methyltetrahydrofolate-homocysteine S-methyltransferase) gene, resulting in megaloblastic anemia and neurologic s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10104442f530f1fc0d21edbd15d84fc0
https://pubmed.ncbi.nlm.nih.gov/28666289
https://pubmed.ncbi.nlm.nih.gov/28666289
