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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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Detalles Bibliográficos
Autores principales:	Aljassim, Nada, Alfadhel, Majid, Nashabat, Marwan, Eyaid, Wafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479436/ https://www.ncbi.nlm.nih.gov/pubmed/32939339 http://dx.doi.org/10.1016/j.ymgmr.2020.100644

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