article_metadata: Salam Massadeh Muhammad Umair Manal Alaamery Majid Alfadhel
article_metadata: 10.3389/fneur.2019.00411
article_metadata: Front Neurol
article_metadata: 2019 Apr 24;10:411.
article_metadata: mthfr microcephaly non-sense mutation severe methylenetetrahydrofolate reductase deficiency white matter disease
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31068897/
article_metadata: Case Reports
article_metadata: PMC6491806
article_metadata: 31068897
article_metadata: A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
article_metadata: 2019