Author:
Birnbaum T.,Blom H. J.,Prokisch H.,Hartig M.,Klopstock T.
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Reference11 articles.
1. Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J (1998) Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 157:77–83
2. Tonetti C, Ruivard M, Rieu V, Zittoun J, Giraudier S (2002) Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult. Br J Haematol 119:397–399
3. Morel CF, Scott P, Christensen E, Rosenblatt DS, Rozen R (2005) Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. Mol Genet Metab 85:115–120
4. Goyette P, Frosst P, Rosenblatt DS, Rima R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56:1052–1059
5. Tonetti C, Amiel J, Munnich A, Zittoun J (2001) Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study. J Inherit Metab Dis 24:833–842
Cited by
16 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献