Phoenix from the Ashes: Dramatic Improvement in Severe Late-onset Methylenetetrahydrofolate Reductase (MTHFR) Deficiency with a Complete Loss of Vision
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References
1.
Huemer M, Mulder-Bleile R, Burda P, Froese D, Suormala T, Ben Zeev B
. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis. 2015; 39(1):115-24.
PMC: 6551224.
DOI: 10.1007/s10545-015-9860-6.
View
2.
Mudd S, UHLENDORF B, Freeman J, Finkelstein J, Shih V
. Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun. 1972; 46(2):905-12.
DOI: 10.1016/s0006-291x(72)80227-4.
View
3.
Froese D, Huemer M, Suormala T, Burda P, Coelho D, Gueant J
. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. Hum Mutat. 2016; 37(5):427-38.
DOI: 10.1002/humu.22970.
View
4.
Shute C
. A case report of branch retinal artery occlusion in a teenager due to hyperhomocysteinaemia; the interplay of genetic and nutritional defects. BMC Ophthalmol. 2018; 18(Suppl 1):220.
PMC: 6156839.
DOI: 10.1186/s12886-018-0859-2.
View
5.
Goyette P, Frosst P, Rosenblatt D, 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.
PMC: 1801446.
View