Similar articles for PMID: 16773563

Year	Number of Results
1993	1
1994	1
1995	1
1997	2
1999	4
2000	1
2001	2
2002	4
2003	4
2004	6
2005	5
2006	5
2007	1
2008	2
2009	4
2010	4
2011	5
2012	4
2013	3
2014	5
2015	2
2016	5
2017	12
2018	10
2019	2
2020	9
2021	5
2022	6
2023	1
2024	0

1

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. Spada M, et al. Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16773563 Free PMC article.

2

Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL. Chien YH, et al. Mol Med. 2012 Jul 18;18(1):780-4. doi: 10.2119/molmed.2012.00002. Mol Med. 2012. PMID: 22437327 Free PMC article.

3

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. Hwu WL, et al. Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074. Hum Mutat. 2009. PMID: 19621417 Free PMC article.

4

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. Lin HY, et al. Circ Cardiovasc Genet. 2009 Oct;2(5):450-6. doi: 10.1161/CIRCGENETICS.109.862920. Epub 2009 Jul 24. Circ Cardiovasc Genet. 2009. PMID: 20031620

5

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Shabbeer J, et al. Hum Genomics. 2006 Mar;2(5):297-309. doi: 10.1186/1479-7364-2-5-297. Hum Genomics. 2006. PMID: 16595074 Free PMC article.

6

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Nakao S, et al. Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x. Kidney Int. 2003. PMID: 12911529 Free article.

7

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW. Choi JH, et al. Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. Medicine (Baltimore). 2017. PMID: 28723748 Free PMC article.

8

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

Adalsteinsdottir B, Palsson R, Desnick RJ, Gardarsdottir M, Teekakirikul P, Maron M, Appelbaum E, Neisius U, Maron BJ, Burke MA, Chen B, Pagant S, Madsen CV, Danielsen R, Arngrimsson R, Feldt-Rasmussen U, Seidman JG, Seidman CE, Gunnarsson GT. Adalsteinsdottir B, et al. Circ Cardiovasc Genet. 2017 Aug;10(4):e001639. doi: 10.1161/CIRCGENETICS.116.001639. Circ Cardiovasc Genet. 2017. PMID: 28798024

9

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. De Brabander I, et al. Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4. Clin Neurol Neurosurg. 2013. PMID: 23219219

10

Fabry disease: Review and experience during newborn screening.

Hsu TR, Niu DM. Hsu TR, et al. Trends Cardiovasc Med. 2018 May;28(4):274-281. doi: 10.1016/j.tcm.2017.10.001. Epub 2017 Oct 20. Trends Cardiovasc Med. 2018. PMID: 29100912 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

101 results

Results by year