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Items: 1 to 20 of 214

2.

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW.

Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074.

3.

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.

4.

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
5.

High incidence of later-onset fabry disease revealed by newborn screening.

Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ.

Am J Hum Genet. 2006 Jul;79(1):31-40. Epub 2006 Apr 28.

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.

8.

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
9.

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
10.

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.

11.

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.

Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S.

J Hum Genet. 2013 Aug;58(8):548-52. doi: 10.1038/jhg.2013.48. Epub 2013 May 16.

PMID:
23677059
12.

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
13.
14.

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.

Hum Mutat. 2003 Dec;22(6):486-92.

PMID:
14635108
15.
16.

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

Tai CL, Liu MY, Yu HC, Chiang CC, Chiang H, Suen JH, Kao SM, Huang YH, Wu TJ, Yang CF, Tsai FC, Lin CY, Chang JG, Chen HD, Niu DM.

Clin Chim Acta. 2012 Feb 18;413(3-4):422-7. doi: 10.1016/j.cca.2011.10.023. Epub 2011 Oct 29.

PMID:
22063097
17.

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.

Mol Med. 1999 Dec;5(12):806-11.

19.
20.

Diagnosing lysosomal storage disorders: Fabry disease.

Bodamer OA, Johnson B, Dajnoki A.

Curr Protoc Hum Genet. 2013;Chapter 17:Unit17.13. doi: 10.1002/0471142905.hg1713s77.

PMID:
23595598
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