High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.

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作者： Srilatha,Kadali ^[1] ; Ananthaneni,Radhika ^[1] ; Yadam Reddy,Kanaka Durga Devi ^[1] ; Jagadeesh Babu,Sreemanthula ^[1] ; Gopi,Palakonda ^[1] ; Tajamul,Hussain ^[2] ; Shaik Mohammad,Naushad ^[3]

作者单位： Yoda Diagnostics Pvt Ltd, 6-3-862/A, Lal Bungalow add on, Ameerpet, Hyderabad, India. ^[1] Center of Excellence in Biotechnology Research, King Saud University, Riyadh 11451, Saudi Arabia; Research Chair for Biomedical Application of Nanomaterials, Biochemistry Department, King Saud University, Riyadh 11451, Saudi Arabia. ^[2] Yoda Diagnostics Pvt Ltd, 6-3-862/A, Lal Bungalow add on, Ameerpet, Hyderabad, India. Electronic address: naushadsm@gmail.com. ^[3]

关键词 Clinical manifestations Folate fortification Homocysteine MTHFR c.665C>T rs1801133

主题词人类(Humans);亚甲基四氢叶酸还原酶(NADPH)(Methylenetetrahydrofolate Reductase (NADPH2));女(雌)性(Female);叶酸(Folic Acid);表型(Phenotype);男(雄)性(Male);高同种半胱氨酸血症(Hyperhomocysteinemia);多态性, 单核苷酸(Polymorphism, Single Nucleotide);成年人(Adult);儿童, 学龄前(Child, Preschool);儿童(Child);食品, 强化(Food, Fortified);等位基因(Alleles);基因型(Genotype)

DOI 10.1016/j.clnesp.2024.11.027

PMID 39608496

发布时间 2025-01-22

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Clinical nutrition ESPEN

2025年65卷

126-133页

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High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.

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High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C&gt;T polymorphism in the absence of folate fortification.

Clinical nutrition ESPEN

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Clinical nutrition ESPEN

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High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.