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Items: 1 to 20 of 98

1.

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

Lee SH, Li CF, Lin HY, Lin CH, Liu HC, Tsai SF, Niu DM.

Mol Genet Metab. 2014 Apr;111(4):507-12. doi: 10.1016/j.ymgme.2014.02.004. Epub 2014 Feb 17.

PMID:
24613481
3.

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ.

Clin Chim Acta. 2014 Apr 20;431:80-6. doi: 10.1016/j.cca.2014.01.030. Epub 2014 Feb 7.

PMID:
24513544
4.

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
5.

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.

6.

Evaluation of the iPLEX® Sample ID Plus Panel designed for the Sequenom MassARRAY® system. A SNP typing assay developed for human identification and sample tracking based on the SNPforID panel.

Johansen P, Andersen JD, Børsting C, Morling N.

Forensic Sci Int Genet. 2013 Sep;7(5):482-7. doi: 10.1016/j.fsigen.2013.04.009. Epub 2013 Jun 28.

PMID:
23948317
7.

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
8.

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.

9.

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

Scott CR, Elliott S, Buroker N, Thomas LI, Keutzer J, Glass M, Gelb MH, Turecek F.

J Pediatr. 2013 Aug;163(2):498-503. doi: 10.1016/j.jpeds.2013.01.031. Epub 2013 Mar 1.

10.

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
11.
12.

Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping.

Arcila M, Lau C, Nafa K, Ladanyi M.

J Mol Diagn. 2011 Jan;13(1):64-73. doi: 10.1016/j.jmoldx.2010.11.005. Epub 2010 Dec 23.

13.

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
14.

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
15.

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
16.

Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.

Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L.

J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

17.

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Nakano S, Morizane Y, Makisaka N, Suzuki T, Togawa T, Tsukimura T, Kawashima I, Sakuraba H, Shibasaki F.

PLoS One. 2013 Nov 13;8(11):e78588. doi: 10.1371/journal.pone.0078588. eCollection 2013.

18.

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
19.

[Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs].

Caudron É, Roy S, Germain DP, Chaminade P, Prognon P.

Presse Med. 2007 Mar;36 Spec No 1:1S76-81. Review. French.

PMID:
17546773
20.

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien YH, Hwu WL, Lukacs Z, Mühl A, Zhang XK, Bodamer O.

Clin Chim Acta. 2010 Oct 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22.

PMID:
20338160
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