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Items: 1 to 20 of 386

1.

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.

De Brabander I, Yperzeele L, Ceuterick-De Groote C, Brouns R, Baker R, Belachew S, Delbecq J, De Keulenaer G, Dethy S, Eyskens F, Fumal A, Hemelsoet D, Hughes D, Jeangette S, Nuytten D, Redondo P, Sadzot B, Sindic C, Sheorajpanday R, Thijs V, Van Broeckhoven C, De Deyn PP.

Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4.

PMID:
23219219
2.

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Ferreira S, Auray-Blais C, Boutin M, Lavoie P, Nunes JP, Martins E, Garman S, Oliveira JP.

Clin Chim Acta. 2015 Jul 20;447:96-104. doi: 10.1016/j.cca.2015.06.003. Epub 2015 Jun 9.

3.

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, Ishige N, Suzuki K, Kitagawa T, Sakuraba H.

Mol Genet Metab. 2010 Jul;100(3):257-61. doi: 10.1016/j.ymgme.2010.03.020. Epub 2010 Apr 1.

PMID:
20409739
4.

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

Niemann M, Rolfs A, Störk S, Bijnens B, Breunig F, Beer M, Ertl G, Wanner C, Weidemann F.

Circ Cardiovasc Genet. 2014 Feb;7(1):8-16. doi: 10.1161/CIRCGENETICS.113.000249. Epub 2014 Jan 6.

5.

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.

Maruyama H, Takata T, Tsubata Y, Tazawa R, Goto K, Tohyama J, Narita I, Yoshioka H, Ishii S.

Clin J Am Soc Nephrol. 2013 Apr;8(4):629-36. doi: 10.2215/CJN.08780812. Epub 2013 Jan 10.

6.

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, Redondo P, Hemelsoet D, Fumal A, Jeangette S, Verslegers W, Baker R, Hughes D, De Deyn PP; BeFaS Investigators.

Stroke. 2010 May;41(5):863-8. doi: 10.1161/STROKEAHA.110.579409. Epub 2010 Apr 1.

7.

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.

Dubuc V, Moore DF, Gioia LC, Saposnik G, Selchen D, Lanthier S.

J Stroke Cerebrovasc Dis. 2013 Nov;22(8):1288-92. doi: 10.1016/j.jstrokecerebrovasdis.2012.10.005. Epub 2012 Nov 17.

PMID:
23168217
8.

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand SM, Brand E.

Orphanet J Rare Dis. 2016 May 4;11(1):54. doi: 10.1186/s13023-016-0441-z.

10.

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM.

Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19.

11.

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ.

J Med Genet. 2015 Apr;52(4):262-8. doi: 10.1136/jmedgenet-2014-102872. Epub 2015 Jan 16.

PMID:
25596309
12.

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P.

Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19.

PMID:
25149322
13.

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.

PLoS One. 2013;8(3):e57631. doi: 10.1371/journal.pone.0057631. Epub 2013 Mar 5.

14.

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Sueoka H, Ichihara J, Tsukimura T, Togawa T, Sakuraba H.

PLoS One. 2015 May 12;10(5):e0127048. doi: 10.1371/journal.pone.0127048. eCollection 2015.

15.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

de Greef BT, Hoeijmakers JG, Wolters EE, Smeets HJ, van den Wijngaard A, Merkies IS, Faber CG, Gerrits MM.

PLoS One. 2016 Feb 11;11(2):e0148316. doi: 10.1371/journal.pone.0148316. eCollection 2016.

16.

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

Rombach SM, Aerts JM, Poorthuis BJ, Groener JE, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CE, Linthorst GE.

PLoS One. 2012;7(10):e47805. doi: 10.1371/journal.pone.0047805. Epub 2012 Oct 19.

17.

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.

Okur I, Ezgu F, Biberoglu G, Tumer L, Erten Y, Isitman M, Eminoglu FT, Hasanoglu A.

Gene. 2013 Sep 15;527(1):42-7. doi: 10.1016/j.gene.2013.05.050. Epub 2013 Jun 10.

PMID:
23756194
18.

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.

Oder D, Üçeyler N, Liu D, Hu K, Petritsch B, Sommer C, Ertl G, Wanner C, Nordbeck P.

BMJ Open. 2016 Apr 8;6(4):e010422. doi: 10.1136/bmjopen-2015-010422.

19.

High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM.

Circ Cardiovasc Genet. 2009 Oct;2(5):450-6. doi: 10.1161/CIRCGENETICS.109.862920. Epub 2009 Jul 24.

20.

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A.

Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25.

PMID:
21517827

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