Author:
Gales Ana,Masingue Marion,Millecamps Stephanie,Giraudier Stephane,Grosliere Laure,Adam Claude,Salim Claudio,Navarro Vincent,Nadjar Yann
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference13 articles.
1. Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Gueant JL, et al. Mutation update and review of severe Methylenetetrahydrofolate Reductase deficiency. Hum Mutat. 2016;37(5):427–38.
2. Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, et al. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis. 2016;39(1):115–24.
3. Goyette P, Frosst P, Rosenblatt DS, Rozen R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet. 1995;56(5):1052–9.
4. Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, et al. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280–7.
5. Cohen Aubart F, Sedel F, Papo T. Cystathionine betasynthase and MTHFR deficiencies in adults. Rev Neurol. 2007;163(10):904–10.
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