Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
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DOI: 10.1097/mcd.0000000000000407
Abstract: Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in… read more here.
Keywords: homocystinuria caused; neurological phenotypes; variable neurological; methylenetetrahydrofolate reductase ... See more keywords