206 related articles for article (PubMed ID: 24323041)
1. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
Diekman EF; de Koning TJ; Verhoeven-Duif NM; Rovers MM; van Hasselt PM
JAMA Neurol; 2014 Feb; 71(2):188-94. PubMed ID: 24323041
[TBL] [Abstract][Full Text] [Related]
2. Early treatment using betaine and methionine for a neonate with MTHFR deficiency.
Nishimoto E; Ito Y; Sakakibara T; Nishikubo T
Pediatr Int; 2019 Dec; 61(12):1265-1266. PubMed ID: 31782227
[No Abstract] [Full Text] [Related]
3. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
D'Aco KE; Bearden D; Watkins D; Hyland K; Rosenblatt DS; Ficicioglu C
Pediatr Neurol; 2014 Aug; 51(2):266-70. PubMed ID: 25079578
[TBL] [Abstract][Full Text] [Related]
4. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
Prasad AN; Rupar CA; Prasad C
Brain Dev; 2011 Oct; 33(9):758-69. PubMed ID: 21778025
[TBL] [Abstract][Full Text] [Related]
5. [Methylenetetrahydrofolate reductase deficiency-induced schizophrenia in a school-age boy].
Wang Q; Liu J; Liu YP; Li XY; Ma YY; Wu TF; Ding Y; Song JQ; Wang YJ; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Jan; 16(1):62-6. PubMed ID: 24461181
[TBL] [Abstract][Full Text] [Related]
6. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
Lossos A; Teltsh O; Milman T; Meiner V; Rozen R; Leclerc D; Schwahn BC; Karp N; Rosenblatt DS; Watkins D; Shaag A; Korman SH; Heyman SN; Gal A; Newman JP; Steiner-Birmanns B; Abramsky O; Kohn Y
JAMA Neurol; 2014 Jul; 71(7):901-4. PubMed ID: 24797679
[TBL] [Abstract][Full Text] [Related]
7. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Munoz T; Patel J; Badilla-Porras R; Kronick J; Mercimek-Mahmutoglu S
Brain Dev; 2015 Jan; 37(1):168-70. PubMed ID: 24726568
[TBL] [Abstract][Full Text] [Related]
8. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.
Schwahn BC; Laryea MD; Chen Z; Melnyk S; Pogribny I; Garrow T; James SJ; Rozen R
Biochem J; 2004 Sep; 382(Pt 3):831-40. PubMed ID: 15217352
[TBL] [Abstract][Full Text] [Related]
9. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R; Moya-García AA; Pino-Ángeles A; Cozar M; Langkilde A; Fanhoe U; Esteves C; Arribas J; Vilaseca MA; Pérez-Dueñas B; Pineda M; González V; Artuch R; Baldellou A; Vilarinho L; Fowler B; Ribes A; Sánchez-Jiménez F; Grinberg D; Balcells S
Clin Genet; 2010 Nov; 78(5):441-8. PubMed ID: 20236116
[TBL] [Abstract][Full Text] [Related]
10. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.
Lawrance AK; Racine J; Deng L; Wang X; Lachapelle P; Rozen R
J Inherit Metab Dis; 2011 Feb; 34(1):147-57. PubMed ID: 20532821
[TBL] [Abstract][Full Text] [Related]
11. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M; Mulder-Bleile R; Burda P; Froese DS; Suormala T; Zeev BB; Chinnery PF; Dionisi-Vici C; Dobbelaere D; Gökcay G; Demirkol M; Häberle J; Lossos A; Mengel E; Morris AA; Niezen-Koning KE; Plecko B; Parini R; Rokicki D; Schiff M; Schimmel M; Sewell AC; Sperl W; Spiekerkoetter U; Steinmann B; Taddeucci G; Trejo-Gabriel-Galán JM; Trefz F; Tsuji M; Vilaseca MA; von Kleist-Retzow JC; Walker V; Zeman J; Baumgartner MR; Fowler B
J Inherit Metab Dis; 2016 Jan; 39(1):115-24. PubMed ID: 26025547
[TBL] [Abstract][Full Text] [Related]
12. Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Couser NL; McClure J; Evans MW; Haines NR; Burden SK; Muenzer J
Ophthalmic Genet; 2017; 38(1):91-94. PubMed ID: 27046515
[TBL] [Abstract][Full Text] [Related]
13. Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.
Bishop L; Kanoff R; Charnas L; Krenzel C; Berry SA; Schimmenti LA
J Child Neurol; 2008 Jul; 23(7):823-8. PubMed ID: 18658082
[TBL] [Abstract][Full Text] [Related]
14. Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.
Cappuccio G; Cozzolino C; Frisso G; Romanelli R; Parenti G; D'Amico A; Carotenuto B; Salvatore F; Del Giudice E
Neurology; 2014 Jul; 83(3):e41-4. PubMed ID: 25024447
[No Abstract] [Full Text] [Related]
15. Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.
Chaabene-Masmoudi A; Mesrati F; Zittoun J; Landrieu P
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S303-6. PubMed ID: 19697151
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency].
Zhang HT; Ma X; Jin Y; Li MQ; Song JQ; Chen ZH; Liu Y; Lu XP; Zheng H; Yang YL
Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):357-362. PubMed ID: 38527507
[No Abstract] [Full Text] [Related]
17. Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation.
Garner JL; Niles KM; McGraw S; Yeh JR; Cushnie DW; Hermo L; Nagano MC; Trasler JM
Biol Reprod; 2013 Nov; 89(5):125. PubMed ID: 24048573
[TBL] [Abstract][Full Text] [Related]
18. Methylene Tetrahydrofolate Reductase Deficiency.
Kaur R; Correa ARE; Thakur S; Kabra M; Gupta N
Indian J Pediatr; 2020 Nov; 87(11):951-953. PubMed ID: 32451826
[TBL] [Abstract][Full Text] [Related]
19. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Strauss KA; Morton DH; Puffenberger EG; Hendrickson C; Robinson DL; Wagner C; Stabler SP; Allen RH; Chwatko G; Jakubowski H; Niculescu MD; Mudd SH
Mol Genet Metab; 2007 Jun; 91(2):165-75. PubMed ID: 17409006
[TBL] [Abstract][Full Text] [Related]
20. Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.
Jadavji NM; Deng L; Leclerc D; Malysheva O; Bedell BJ; Caudill MA; Rozen R
Mol Genet Metab; 2012 Jun; 106(2):149-59. PubMed ID: 22521626
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
