A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

Overview of attention for article published in Frontiers in Neurology, April 2019

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So far, Dimensions has found 9 publications that cite this research output.

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Changes in gut microbiota and lactose intolerance symptoms before and after daily lactose supplementation in individuals with the lactase nonpersistent genotype

Article in American Journal of Clinical Nutrition (December 2023)

A case of MTHFR deficiency characterized by adult-onset spastic paraplegia

Article in QJM (November 2023)

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish

Article in Human Molecular Genetics (January 2023)

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