Associated Papers
Biallelic MTHFD1 variants presenting as severe combined immunodeficiency.
Lee ASE et al.
Clinical Immunology (orlando, Fla.), 2023
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene.
Desai M et al.
Computational Biology and Chemistry, 2017
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
Watkins D et al.
Biochimie, 2016
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P et al.
Journal of Inherited Metabolic Disease, 2015
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
Field MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.
Field MS et al.
Rare Diseases (austin, Tex.), 2015
New facets of antibody deficiencies.
Liadaki K et al.
Current Opinion in Immunology, 2013
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
Watkins D et al.
Journal of Medical Genetics, 2011
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