Publications:

A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: G149V

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

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A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences

Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2021-12-23

Variant appearance in text: MTHFR: G149V

PubMed Link: 35008593

Variant Present in the following documents:

• Main text
• ijms-23-00167.pdf

View BVdb publication page

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

Bmc Neurology

Iida, Shin S; Nakamura, Masataka M; Asayama, Shinya S; Kunieda, Takenobu T; Kaneko, Satoshi S; Osaka, Hitoshi H; Kusaka, Hirofumi H

Publication Date: 2017-02-28

Variant appearance in text: MTHFR: Gly149Val

PubMed Link: 28241805

Variant Present in the following documents:

• Main text
• 12883_2017_Article_827.pdf

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease

Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B

Publication Date: 2016-01

Variant appearance in text: MTHFR: Gly149Val

PubMed Link: 26025547

Variant Present in the following documents:

• Main text

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