Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision-Reference-Cited by-同舟云学术

Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision

Published:2021-10-17 Issue: Volume: Page:
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Biesalski Anne-Sophie^ORCID,Hoffjan Sabine,Schneider Ruth,Nguyen Huu Phuc,Dekomien Gabriele,Lücke Thomas,Schneider-Gold Christiane,Matusche Britta,Gold Ralf,Ayzenberg Ilya

Funder

Ruhr-Universität Bochum

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-021-10841-x.pdf

Reference12 articles.

1. Froese DS, Huemer M, Terttu S et al (2016) Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Hum Mutat 37:427–438

2. Mudd SH, Uhlendorf BW, Freeman JM et al (1972) Homocysteinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun 46:905–912

3. Huemer M, Mulder-Bleile R, Burda P et al (2015) Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5,10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis 39:115–124

4. Rosenblatt DS, Erbe RW (1977) Methylenetetrahydrofolate reductase in cultured human cells. II. Studies of methylenetetrahydrofolate reductase deficiency. Pediatr Res 11:1141–1143

5. Diekman EF, de Koning TJ, Verhoeven-Duif NM et al (2014) Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency. JAMA Neurol 71(2):188–194

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