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Items: 1 to 20 of 128

1.

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).

Lin HY, Liu HC, Huang YH, Liao HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, Lin CY, Lin SP, Niu DM.

BMJ Open. 2013 Jul 16;3(7). pii: e003146. doi: 10.1136/bmjopen-2013-003146. Print 2013.

2.

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).

Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM.

Orphanet J Rare Dis. 2014 Jul 22;9:111. doi: 10.1186/s13023-014-0111-y.

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.

Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.

Lin HY, Huang YH, Liao HC, Liu HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, Lin SP, Niu DM.

J Chin Med Assoc. 2014 Apr;77(4):190-7. doi: 10.1016/j.jcma.2013.11.006. Epub 2013 Dec 30.

5.

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey.

Hsu TR, Chang FP, Chu TH, Sung SH, Bizjajeva S, Yu WC, Niu DM.

Int J Mol Sci. 2017 Jan 9;18(1). pii: E119. doi: 10.3390/ijms18010119.

6.

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

Hsu TR, Sung SH, Chang FP, Yang CF, Liu HC, Lin HY, Huang CK, Gao HJ, Huang YH, Liao HC, Lee PC, Yang AH, Chiang CC, Lin CY, Yu WC, Niu DM.

Orphanet J Rare Dis. 2014 Jul 1;9:96. doi: 10.1186/1750-1172-9-96.

7.

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
8.

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.

Auray-Blais C, Lavoie P, Boutin M, Ntwari A, Hsu TR, Huang CK, Niu DM.

Clin Chim Acta. 2017 Mar;466:185-193. doi: 10.1016/j.cca.2017.01.018. Epub 2017 Jan 18.

PMID:
28108302
9.

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U, Elliott P, Mehta AB, Hughes DA.

PLoS One. 2018 Apr 5;13(4):e0193550. doi: 10.1371/journal.pone.0193550. eCollection 2018.

10.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, Dzhagalov I, Yang CF, Chu TH, Lee HJ, Lu YH, Chang SK, Liao HC, Lin HY, Liao TC, Lee PC, Li HY, Yang AH, Ho HC, Chiang CC, Lin CY, Desnick RJ, Niu DM.

J Am Coll Cardiol. 2016 Dec 13;68(23):2554-2563. doi: 10.1016/j.jacc.2016.09.943.

11.

Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.

Mignani R, Feriozzi S, Pisani A, Cioni A, Comotti C, Cossu M, Foschi A, Giudicissi A, Gotti E, Lozupone VA, Marchini F, Martinelli F, Bianco F, Panichi V, Procaccini DA, Ragazzoni E, Serra A, Soliani F, Spinelli L, Torti G, Veroux M, Cianciaruso B, Cagnoli L.

Nephrol Dial Transplant. 2008 May;23(5):1628-35. Epub 2007 Dec 5.

PMID:
18057066
12.

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

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

J Inherit Metab Dis. 2010 Oct;33(5):619-24. doi: 10.1007/s10545-010-9166-7. Epub 2010 Sep 7.

PMID:
20821055
13.

Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.

Sakuraba H, Togawa T, Tsukimura T, Kato H.

Clin Exp Nephrol. 2017 Dec 29. doi: 10.1007/s10157-017-1525-3. [Epub ahead of print]

PMID:
29288396
14.
16.

Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy.

Chen KH, Chien Y, Wang KL, Leu HB, Hsiao CY, Lai YH, Wang CY, Chang YL, Lin SJ, Niu DM, Chiou SH, Yu WC.

Can J Cardiol. 2016 Oct;32(10):1221.e1-1221.e9. doi: 10.1016/j.cjca.2015.10.033. Epub 2015 Nov 10.

PMID:
26919792
17.

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
18.

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.

19.

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.

Chien Y, Chien CS, Chiang HC, Huang WL, Chou SJ, Chang WC, Chang YL, Leu HB, Chen KH, Wang KL, Lai YH, Liu YY, Lu KH, Li HY, Sung YJ, Jong YJ, Chen YJ, Chen CH, Yu WC.

Oncotarget. 2016 Dec 27;7(52):87161-87179. doi: 10.18632/oncotarget.13552.

20.

Enzyme replacement therapy improves cardiac features and severity of Fabry disease.

Motwani M, Banypersad S, Woolfson P, Waldek S.

Mol Genet Metab. 2012 Sep;107(1-2):197-202. doi: 10.1016/j.ymgme.2012.05.011. Epub 2012 May 29.

PMID:
22704481

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