Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases-Reference-Cited by-同舟云学术

Methenyltetrahydrofolate synthease deficiency (MTHFS deficiency): Novel mutation and brain MRI findings: A case report and glance to other cases

Published:2022-04 Issue: Volume:215 Page:107153
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Vafaee-Shahi Mohammad,Amirkashani Davoud,Ashrafi Mahmoud Reza,Tahernia Leila,Riahi Aina

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference5 articles.

1. Folate metabolism and requirements;Lynn;J. Nutr.,1999

2. Patti Sherman, Bao Lige. 5,10-Methenyltetrahydrofolate Synthetase; MTHFS. OMIM, McKusick-Nathans Institute of Genetic Medicine (Apr., 2019), p. 4 〈www.omim.org/entry/604197〉.

3. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination;Rodan;Mol. Genet Metab.,2018

4. A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia;Jacqueline;Mol. Genet. Metab. Rep.,2019

5. Folate metabolism regulates oligodendrocyte survival and differentiation by modulating AMPKα activity;Weng;Sci. Rep.,2017

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1. 5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings;JIMD Reports;2024-01-14

2. Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency;Frontiers in Genetics;2023-09-18