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Results: 1 to 20 of 111

1.

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. doi: 10.1111/j.1399-0004.2010.01391.x.

PMID:
20236116
[PubMed - indexed for MEDLINE]
2.

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.

Sibani S, Leclerc D, Weisberg IS, O'Ferrall E, Watkins D, Artigas C, Rosenblatt DS, Rozen R.

Hum Mutat. 2003 May;21(5):509-20.

PMID:
12673793
[PubMed - indexed for MEDLINE]
3.

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. doi: 10.1016/j.ymgme.2010.03.002. Epub 2010 Mar 6.

PMID:
20356773
[PubMed - indexed for MEDLINE]
4.

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R.

Hum Mutat. 2000;15(3):280-7.

PMID:
10679944
[PubMed - indexed for MEDLINE]
5.

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 15;382(Pt 3):831-40.

PMID:
15217352
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. doi: 10.1016/j.braindev.2010.08.013. Epub 2010 Sep 20.

PMID:
20850942
[PubMed - indexed for MEDLINE]
7.
8.
9.

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Prasad AN, Rupar CA, Prasad C.

Brain Dev. 2011 Oct;33(9):758-69. doi: 10.1016/j.braindev.2011.05.014. Epub 2011 Jul 22. Review.

PMID:
21778025
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.1001/jamaneurol.2013.4915. Review.

PMID:
24323041
[PubMed - indexed for MEDLINE]
11.

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V.

Hum Mutat. 2005 Mar;25(3):239-47. Erratum in: Hum Mutat. 2005 Dec;26(6):590.

PMID:
15714522
[PubMed - indexed for MEDLINE]
12.

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.

Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S.

J Child Neurol. 2000 Aug;15(8):539-43.

PMID:
10961793
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1007/s10545-010-9127-1. Epub 2010 Jun 8.

PMID:
20532821
[PubMed - indexed for MEDLINE]
14.

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. doi: 10.1177/0883073808315410.

PMID:
18658082
[PubMed - indexed for MEDLINE]
15.

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ.

Eur J Hum Genet. 1998 May-Jun;6(3):257-65.

PMID:
9781030
[PubMed - indexed for MEDLINE]
Free Article
16.

The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events.

D'Angelo A, Coppola A, Madonna P, Fermo I, Pagano A, Mazzola G, Galli L, Cerbone AM.

Thromb Haemost. 2000 Apr;83(4):563-70.

PMID:
10780318
[PubMed - indexed for MEDLINE]
17.

Molecular analysis of homocystinuria in Brazilian patients.

Porto MP, Galdieri LC, Pereira VG, Vergani N, da Rocha JC, Micheletti C, Martins AM, Perez AB, Almeida VD.

Clin Chim Acta. 2005 Dec;362(1-2):71-8. Epub 2005 Jul 5.

PMID:
15993874
[PubMed - indexed for MEDLINE]
18.

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. Epub 2007 Apr 3.

PMID:
17409006
[PubMed - indexed for MEDLINE]
19.

[Molecular genetics of MTHFR: polymorphisms are not all benign].

Leclerc D, Rozen R.

Med Sci (Paris). 2007 Mar;23(3):297-302. Review. French.

PMID:
17349292
[PubMed - indexed for MEDLINE]
20.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Morel CF, Scott P, Christensen E, Rosenblatt DS, Rozen R.

Mol Genet Metab. 2005 Jun;85(2):115-20. Epub 2005 Apr 1.

PMID:
15896655
[PubMed - indexed for MEDLINE]

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