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Article

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.

Clinical dysmorphology - 1 Apr 2022

Moirangthem Amita, Saxena Deepti, Masih Suzena, Shambhavi Arya, Nilay Mayank, Phadke Shubha R

Abstract excerpt

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 MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a...

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PMID: 34845156
DOI: 10.1097/MCD.0000000000000407

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