188 related articles for article (PubMed ID: 37239340)
1. Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta F; Uomo F; Fecarotta S; Albano L; Crisci D; Verde A; Fisco MG; Gallo G; Dottore Stagna D; Pricolo MR; Alagia M; Terrone G; Rossi A; Parenti G; Ruoppolo M; Mazzaccara C; Frisso G
Genes (Basel); 2023 Apr; 14(5):. PubMed ID: 37239340
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.
Vemireddy K; Panigrahy N; Lingappa L; Chirla D
BMJ Case Rep; 2022 Jan; 15(1):. PubMed ID: 34983810
[TBL] [Abstract][Full Text] [Related]
4. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M; Leroux S; Imbard A; Gleich F; Arion A; Moreau C; Nassogne MC; Szymanowski M; Tardieu M; Touati G; Bueno M; Chapman KA; Chien YH; Huemer M; Ješina P; Janssen MCH; Kölker S; Kožich V; Lavigne C; Lund AM; Mochel F; Morris A; Pons MR; Porras-Hurtado GL; Benoist JF; Damaj L; Schiff M;
J Inherit Metab Dis; 2022 Jul; 45(4):848-861. PubMed ID: 35460084
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
Forges T; Chery C; Audonnet S; Feillet F; Gueant JL
Mol Genet Metab; 2010 Jun; 100(2):143-8. PubMed ID: 20356773
[TBL] [Abstract][Full Text] [Related]
7. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Goyette P; Christensen B; Rosenblatt DS; Rozen R
Am J Hum Genet; 1996 Dec; 59(6):1268-75. PubMed ID: 8940272
[TBL] [Abstract][Full Text] [Related]
8. Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Rommer PS; Zschocke J; Fowler B; Födinger M; Konstantopoulou V; Möslinger D; Stögmann E; Suess E; Baumgartner M; Auff E; Sunder-Plassmann G
J Neurol Sci; 2017 Dec; 383():123-127. PubMed ID: 29246599
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
Ahmed S; Akbar F; DeBerardinis RJ; Ni M; Afroze B
J Pediatr Endocrinol Metab; 2023 Aug; 36(8):761-771. PubMed ID: 37440674
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P; Suormala T; Heuberger D; Schäfer A; Fowler B; Froese DS; Baumgartner MR
J Inherit Metab Dis; 2017 Mar; 40(2):297-306. PubMed ID: 27743313
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Liu X; Li Y; Wang M; Wang X; Zhang L; Peng T; Liang W; Wang Z; Lu H
Aging (Albany NY); 2020 Dec; 13(1):1176-1185. PubMed ID: 33290257
[TBL] [Abstract][Full Text] [Related]
17. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin BL; Varga E
J Genet Couns; 2016 Oct; 25(5):901-11. PubMed ID: 27130656
[TBL] [Abstract][Full Text] [Related]
18. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Tsuji M; Takagi A; Sameshima K; Iai M; Yamashita S; Shinbo H; Furuya N; Kurosawa K; Osaka H
Brain Dev; 2011 Jun; 33(6):521-4. PubMed ID: 20850942
[TBL] [Abstract][Full Text] [Related]
19. Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.
Iida S; Nakamura M; Asayama S; Kunieda T; Kaneko S; Osaka H; Kusaka H
BMC Neurol; 2017 Feb; 17(1):47. PubMed ID: 28241805
[TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.
Lu Y; Zhao S; He X; Yang H; Wang X; Miao C; Liu H; Zhang X
BMC Med Genomics; 2022 Dec; 15(1):271. PubMed ID: 36567323
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]