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Select item 101171621.

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish

Rebecca Simonian, Emanuela Pannia, Rola Hammoud, Ramil R Noche, Xiucheng Cui, Eva Kranenburg, Ruslan Kubant, Paula Ashcraft, Brandi Wasek, Teodoro Bottiglieri, James J Dowling, G Harvey Anderson

Hum Mol Genet. 2023 May 1; 32(9): 1575–1588. Published online 2023 Jan 13. doi: 10.1093/hmg/ddac308

PMCID:: PMC10117162

Abstract Article PDF–1.7M

Select item 98291992.

Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report

Yuan Ding, Qiao Wang, Chun-Xiu Gong

Med Int (Lond) 2022 Mar-Apr; 2(2): 12. Published online 2022 Apr 5. doi: 10.3892/mi.2022.37

PMCID:: PMC9829199

Abstract Article PDF–570K

Select item 83383953.

MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.

V Engelbrecht, M Rassek, J Huismann, U Wendel

AJNR Am J Neuroradiol. 1997 Mar; 18(3): 536-9.

PMCID:: PMC8338395

Summary PDF–307K

Select item 74794364.

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Nada Aljassim, Majid Alfadhel, Marwan Nashabat, Wafa Eyaid

Mol Genet Metab Rep. 2020 Dec; 25: 100644. Published online 2020 Sep 2. doi: 10.1016/j.ymgmr.2020.100644

PMCID:: PMC7479436

Abstract Article PDF–885K

Select item 70666025.

Adult-onset methylenetetrahydrofolate reductase deficiency

Daniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, Maria Carmo Macário

BMJ Case Rep. 2020; 13(3): e232241. Published online 2020 Mar 10. doi: 10.1136/bcr-2019-232241

PMCID:: PMC7066602

Abstract Article PDF–957K

Select item 64918066.

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

Salam Massadeh, Muhammad Umair, Manal Alaamery, Majid Alfadhel

Front Neurol. 2019; 10: 411. Published online 2019 Apr 24. doi: 10.3389/fneur.2019.00411

PMCID:: PMC6491806

Abstract Article PDF–3.0M

Select item 53300857.

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

Shin Iida, Masataka Nakamura, Shinya Asayama, Takenobu Kunieda, Satoshi Kaneko, Hitoshi Osaka, Hirofumi Kusaka

BMC Neurol. 2017; 17: 47. Published online 2017 Feb 28. doi: 10.1186/s12883-017-0827-0

PMCID:: PMC5330085

Abstract Article PDF–569K

Select item 50592088.

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency

L. Knowles, A. A. M. Morris, J. H. Walter

JIMD Rep. 2016; 29: 103–107. Published online 2016 Feb 23. doi: 10.1007/8904_2016_529

Correction in:: JIMD Rep. 2016; 29: 117.

PMCID:: PMC5059208

Abstract Article PDF–176K

Select item 47506369.

Methylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue

N.M. Jadavji, F. Wieske, U. Dirnagl, C. Winter

Mol Genet Metab Rep. 2015 Jun; 3: 1–4. Published online 2015 Feb 20. doi: 10.1016/j.ymgmr.2015.02.001

PMCID:: PMC4750636

Abstract Article PDF–334K

Select item 180144610.

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

P Goyette, P Frosst, D S Rosenblatt, R Rozen

Am J Hum Genet. 1995 May; 56(5): 1052–1059.

PMCID:: PMC1801446

Summary Page Browse PDF–1.4M

Select item 179267711.

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.

E Holme, B Kjellman, E Ronge

Arch Dis Child. 1989 Jul; 64(7): 1061–1064. doi: 10.1136/adc.64.7.1061

PMCID:: PMC1792677

Summary Page Browse PDF–464K

Select item 151142212.

Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency.

E Ronge, B Kjellman

Arch Dis Child. 1996 Mar; 74(3): 239–241. doi: 10.1136/adc.74.3.239

PMCID:: PMC1511422

Summary Page Browse PDF–545K

Select item 1021844813.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy

Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso

Genes (Basel) 2023 May; 14(5): 980. Published online 2023 Apr 26. doi: 10.3390/genes14050980

PMCID:: PMC10218448

Abstract Article PDF–3.8M

Select item 1010610314.

MTHFR Deficiency in Biological Siblings Diagnosed With Autism and Attention-Deficit Hyperactivity Disorder (ADHD): A Report of Two Cases

Samira Khan, Abeera Naeem

Cureus. 2023 Mar; 15(3): e36294. Published online 2023 Mar 17. doi: 10.7759/cureus.36294

PMCID:: PMC10106103

Abstract Article PDF–82K

Select item 979012215.

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency

Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu, Xinwen Zhang

BMC Med Genomics. 2022; 15: 271. Published online 2022 Dec 25. doi: 10.1186/s12920-022-01408-4

PMCID:: PMC9790122

Abstract Article PDF–1.7M

Select item 927657716.

SIRT1 pharmacological activation rescues vascular dysfunction and prevents thrombosis in MTHFR deficiency

Albino Carrizzo, Concetta Iside, Angela Nebbioso, Vincenzo Carafa, Antonio Damato, Sebastiano Sciarretta, Giacomo Frati, Flavio Di Nonno, Valentina Valenti, Michele Ciccarelli, Eleonora Venturini, Mariarosaria Scioli, Paola Di Pietro, Tommaso Bucci, Valentina Giudice, Marianna Storto, Bianca Serio, Annibale Alessandro Puca, Giuseppe Giugliano, Valentina Trimarco, Raffaele Izzo, Bruno Trimarco, Carmine Selleri, Lucia Altucci, Carmine Vecchione

Cell Mol Life Sci. 2022 Aug; 79(8): 410. Published online 2022 Jul 11. doi: 10.1007/s00018-022-04429-5