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Items: 1 to 20 of 157

1.

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.

2.

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
3.

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.

4.

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level.

Mitobe S, Togawa T, Tsukimura T, Kodama T, Tanaka T, Doi K, Noiri E, Akai Y, Saito Y, Yoshino M, Takenaka T, Saito S, Ohno K, Sakuraba H.

Mol Genet Metab. 2012 Nov;107(3):623-6. doi: 10.1016/j.ymgme.2012.07.003. Epub 2012 Jul 14.

PMID:
22841442
5.

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.

Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S.

Clin J Am Soc Nephrol. 2008 Jan;3(1):139-45. Epub 2007 Nov 14.

6.

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
7.

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.

Nishino T, Obata Y, Furusu A, Hirose M, Shinzato K, Hattori K, Nakamura K, Matsumoto T, Endo F, Kohno S.

Ren Fail. 2012;34(5):566-70. doi: 10.3109/0886022X.2012.669300.

PMID:
22563919
8.

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.

9.

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.

10.

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.

Togawa T, Kawashima I, Kodama T, Tsukimura T, Suzuki T, Fukushige T, Kanekura T, Sakuraba H.

Biochem Biophys Res Commun. 2010 Sep 3;399(4):716-20. doi: 10.1016/j.bbrc.2010.08.006. Epub 2010 Aug 6.

PMID:
20692233
11.

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.

Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM.

Biochim Biophys Acta. 2010 Sep;1802(9):741-8. doi: 10.1016/j.bbadis.2010.05.003. Epub 2010 May 13.

12.

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.

van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, Breunig F, Wanner C, Aerts JM, Hollak CE.

Biochim Biophys Acta. 2011 Jan;1812(1):70-6. doi: 10.1016/j.bbadis.2010.09.007. Epub 2010 Sep 17.

13.

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
14.

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.

Doi K, Noiri E, Ishizu T, Negishi K, Suzuki Y, Hamasaki Y, Honda K, Fujita T, Tsukimura T, Togawa T, Saito S, Sakuraba H.

J Hum Genet. 2012 Sep;57(9):575-9. doi: 10.1038/jhg.2012.68. Epub 2012 Jun 14.

PMID:
22695894
15.

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL.

J Inherit Metab Dis. 2013 Sep;36(5):881-5. doi: 10.1007/s10545-012-9547-1. Epub 2012 Oct 30.

PMID:
23109060
16.

A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers.

Dupont FO, Gagnon R, Boutin M, Auray-Blais C.

Curr Med Chem. 2013;20(2):280-8.

PMID:
23092136
17.

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Födinger M, Sunder-Plassmann G.

J Am Soc Nephrol. 2004 May;15(5):1323-9. Erratum in: J Am Soc Nephrol. 2004 Sep;15(9):A4. J Am Soc Nephrol. 2004 Aug;15(8):1a.

18.

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ.

Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7. doi: 10.1073/pnas.0712309105. Epub 2008 Feb 19.

19.

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.

20.

Fabry disease: experience of screening dialysis patients for Fabry disease.

Kusano E, Saito O, Akimoto T, Asano Y.

Clin Exp Nephrol. 2014 Apr;18(2):269-73. doi: 10.1007/s10157-013-0897-2. Epub 2013 Nov 6. Review.

PMID:
24189976
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