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Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency

Gawa Bidla, David Watkins, Céline Chéry, D. Sean Froese, Courtney Ells, Matin Kerachian, Avi Saskin, Karen E. Christensen, Brian M. Gilfix, Jean‐Louis Guéant,

Molecular Genetics and Metabolism · 2020 · 20 citations · 17 references

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17

The National Center for Biotechnology Information

D. A. Benson, Mark S. Boguski, David J. Lipman et al. · Genomics · 1990 · 5.2K citations · Full text

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The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 1.8K citations · Full text

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Chapter 1 Folate‐Mediated One‐Carbon Metabolism

Jennifer T. Fox, Patrick J. Stover · Vitamins and hormones · 2008 · 400 citations

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[84] Methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase: A multifunctional protein from porcine liver

Robert E. MacKenzie, Larry U. L. Tan · Methods in enzymology on CD-ROM/Methods in enzymology · 1980 · 118 citations

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NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by immortal cells.

Narciso R. Mejia, Robert E. MacKenzie · Journal of Biological Chemistry · 1985 · 96 citations · Full text

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