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Items: 1 to 20 of 109

1.

A case of Fabry nephropathy with histological features of oligonephropathy.

Nishida M, Kosaka K, Hasegawa K, Nishikawa K, Itoi T, Tsukimura T, Togawa T, Sakuraba H, Hamaoka K.

Eur J Pediatr. 2014 Aug;173(8):1111-4. doi: 10.1007/s00431-013-2118-0. Epub 2013 Aug 3.

PMID:
23913314
2.

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

Chong Y, Kim M, Koh ES, Shin SJ, Kim HS, Chung S.

BMC Med Genet. 2016 Oct 24;17(1):76.

3.

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
4.

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.

5.

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
6.

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.

7.

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.

8.

A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.

Takahashi N, Yokoi S, Kasuno K, Kogami A, Tsukimura T, Togawa T, Saito S, Ohno K, Hara M, Kurosawa H, Hirayama Y, Kurose T, Yokoyama Y, Mikami D, Kimura H, Naiki H, Sakuraba H, Iwano M.

Clin Nephrol. 2015 May;83(5):301-8. doi: 10.5414/CN108317.

PMID:
25295576
9.

[Fabry nephropathy in a female with superposed IgA glomerulonephritis].

Pisani A, Sessa A, Sabbatini M, Andreucci MV, Fusco C, Balletta M, Cianciaruso B.

G Ital Nefrol. 2005 Jul-Aug;22(4):385-9. Italian.

PMID:
16267800
10.
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.

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
13.

Anderson-Fabry disease: a multiorgan disease.

Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G.

Curr Pharm Des. 2013;19(33):5974-96. Review.

PMID:
23448451
14.

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
15.

A case of minimal change disease in a Fabry patient.

Zarate YA, Patterson L, Yin H, Hopkin RJ.

Pediatr Nephrol. 2010 Mar;25(3):553-6. doi: 10.1007/s00467-009-1353-0. Epub 2009 Oct 30.

PMID:
19876652
16.

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.

Nowak A, Mechtler TP, Desnick RJ, Kasper DC.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):57-61. doi: 10.1016/j.ymgme.2016.10.006. Epub 2016 Oct 19.

17.

Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.

Cybulla M, Schaefer E, Wendt S, Ling H, Kröber SM, Hövelborn U, Schandelmaier S, Rohrbach R, Neumann HP.

Am J Kidney Dis. 2005 May;45(5):e82-9.

PMID:
15861341
18.

Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.

Tøndel C, Kanai T, Larsen KK, Ito S, Politei JM, Warnock DG, Svarstad E.

Nephron. 2015;129(1):16-21. doi: 10.1159/000369309. Epub 2014 Dec 17.

19.

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.

Kobayashi M, Ohashi T, Fukuda T, Yanagisawa T, Inomata T, Nagaoka T, Kitagawa T, Eto Y, Ida H, Kusano E.

Mol Genet Metab. 2012 Dec;107(4):711-5. doi: 10.1016/j.ymgme.2012.10.018. Epub 2012 Oct 24.

PMID:
23146289
20.

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.

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