Homocysteine (Hcy) is a potential risk factor for age-related cataract (ARC).
Methylenetetrahydrofolate reductase (MTHFR) is the key enzyme for Hcy metabolism, and …

Kwas foliowy jest niezbędny do właściwego funkcjonowania organizmu i zachowania
homeostazy. Uczestniczy w metabolizmie kwasów nukleinowych, aminokwasów, syntezie …

methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare hereditary disease
characterized by defects in folate and homocysteine metabolism. Individuals with inherited …

Genetic defects affecting the remethylation pathway cause hyperhomocysteinemia. Isolated
remethylation defects are caused by mutations of the 5, 10-methylenetetrahydrofolate …

MTHFR (Methylenetetrahydrofolate reductase) is a pivotal enzyme involved in one-carbon
metabolism, which is critical for the proliferation of cancer cells. In line with this, published …

Discussion It is well defined that MTHFR deficiency is a genetic disorder caused by
compound heterozygous or homozygous mutations. Among the mutations that have been …

目的探讨以婴儿期脑积水为突出表现的亚甲基四氢叶酸还原酶缺乏症患儿的临床特点,
治疗及预后. 方法2 例患儿因脑积水于北京大学第一医院儿科就诊, 经血清总同型半胱氨酸 …

Background: Hyperhomocysteinemia (HHcy) is a risk factor for thromboembolic disease.
Defects in one-carbon metabolism (1-CM)-related genes, such as methylenetetrahydrofolate …

Hay algunas enfermedades secundarias a errores innatos del metabolismo que se asocian
a trastornos psiquiátricos o síntomas neurológicos menores. La existencia de algunos …

Résumé Les leucodystrophies métaboliques doivent être recherchées devant toute
anomalie de la substance blanche non évocatrice d'une maladie inflammatoire ou …