文章基本信息

标题：Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
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作者：Nada Aljassim ; Majid Alfadhel ; Marwan Nashabat 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：25
页码：1-5
DOI：10.1016/j.ymgmr.2020.100644
出版社：Elsevier B.V.
摘要：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 activity. We report here seven pediatric cases with variable presentations including apnea at early infancy, in addition to hydrocephalus that needed drainage.
关键词：Apnea ; Homocysteine (HYC) ; Hydrocephalus ; Methylenetetrahydrofolate reductase (MTHFR)