Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 110

1.

Treatment of inherited homocystinurias.

Schiff M, Blom HJ.

Neuropediatrics. 2012 Dec;43(6):295-304. doi: 10.1055/s-0032-1329883. Epub 2012 Nov 2. Review.

PMID:
23124942
2.

[Inherited metabolic disorders of the transsulfuration pathway].

Haraguchi H.

Nihon Rinsho. 1992 Jul;50(7):1548-54. Japanese.

PMID:
1404882
3.

Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.

Alberto JM, Hamelet J, Noll C, Blaise S, Bronowicki JP, Guéant JL, Delabar JM, Janel N.

Mol Genet Metab. 2007 Aug;91(4):396-8. Epub 2007 Jun 11.

PMID:
17562377
4.

Post- and prenatal diagnostic methods for the homocystinurias.

Fowler B, Jakobs C.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S88-93.

PMID:
9587033
5.

Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.

Maclean KN, Jiang H, Greiner LS, Allen RH, Stabler SP.

Mol Genet Metab. 2012 Mar;105(3):395-403. doi: 10.1016/j.ymgme.2011.11.190. Epub 2011 Dec 2.

PMID:
22192524
6.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ.

J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. Review.

7.

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

Wilcken DE, Wilcken B, Dudman NP, Tyrrell PA.

N Engl J Med. 1983 Aug 25;309(8):448-53.

PMID:
6877313
8.

[Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data].

Guilland JC, Favier A, Potier de Courcy G, Galan P, Hercberg S.

Pathol Biol (Paris). 2003 Mar;51(2):101-10. Review. French.

PMID:
12801808
9.

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.

11.
12.
13.

Isolated remethylation disorders: do our treatments benefit patients?

Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H.

J Inherit Metab Dis. 2011 Feb;34(1):137-45. doi: 10.1007/s10545-010-9120-8. Epub 2010 May 21. Review. Erratum in: J Inherit Metab Dis. 2011 Dec;34(6):1229. Dosage error in article text.

PMID:
20490923
14.

[Cystathionine betasynthase and MTHFR deficiencies in adults].

Cohen Aubart F, Sedel F, Papo T.

Rev Neurol (Paris). 2007 Oct;163(10):904-10. Review. French.

PMID:
18033026
15.

The use of betaine in the treatment of elevated homocysteine.

Lawson-Yuen A, Levy HL.

Mol Genet Metab. 2006 Jul;88(3):201-7. Epub 2006 Mar 20. Review.

PMID:
16545978
16.

Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

Gupta S, Wang L, Kruger WD.

J Inherit Metab Dis. 2016 Jan;39(1):39-46. doi: 10.1007/s10545-015-9883-z. Epub 2015 Aug 1.

17.

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. doi: 10.1016/j.pediatrneurol.2014.04.005. Epub 2014 Apr 13.

PMID:
25079578
18.

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Singh RH, Kruger WD, Wang L, Pasquali M, Elsas LJ 2nd.

Genet Med. 2004 Mar-Apr;6(2):90-5.

PMID:
15017331
19.

Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.

Dudman NP, Guo XW, Gordon RB, Dawson PA, Wilcken DE.

J Nutr. 1996 Apr;126(4 Suppl):1295S-300S.

PMID:
8642474
20.

Homocystinuria: pathogenetic mechanisms.

Grieco AJ.

Am J Med Sci. 1977 Mar-Apr;273(2):120-32. Review.

PMID:
324277

Supplemental Content

Support Center