167 related articles for article (PubMed ID: 30103270)
1. Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH; Yang JT; Lee JD; Chang KC; Peng TI; Chang TY; Huang KL; Liu CH; Ryu SJ; Burlina AP
Eur J Neurol; 2019 Mar; 26(3):553-555. PubMed ID: 30103270
[TBL] [Abstract][Full Text] [Related]
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
Mol Med; 2012 Jul; 18(1):780-4. PubMed ID: 22437327
[TBL] [Abstract][Full Text] [Related]
3. Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
Kinoshita N; Hosomi N; Matsushima H; Nakamori M; Yagita Y; Yamawaki T; Torii T; Kitamura T; Sueda Y; Shimomura R; Araki M; Nezu T; Aoki S; Ishii S; Maruyama H; Matsumoto M; Maruyama H
J Stroke Cerebrovasc Dis; 2018 Dec; 27(12):3563-3569. PubMed ID: 30201457
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 19621417
[TBL] [Abstract][Full Text] [Related]
5. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I; Sarti C; Nencini P; Pracucci G; Zedde M; Cianci V; Nucera A; Moller J; Orsucci D; Toni D; Palumbo P; Casella C; Pinto V; Barbarini L; Bella R; Scoditti U; Ragno M; Mezzapesa DM; Tassi R; Volpi G; Diomedi M; Bigliardi G; Cavallini AM; Chiti A; Ricci S; Cecconi E; Linoli G; Sacco S; Rasura M; Giordano A; Bonetti B; Melis M; Cariddi LP; Dossi RC; Grisendi I; Aguglia U; Di Ruzza MR; Melis M; Sbardella E; Vista M; Valenti R; Musolino RF; Passarella B; Direnzo V; Pennisi G; Genovese A; Di Marzio F; Sgobio R; Acampa M; Nannucci S; Dagostino F; Dell'Acqua ML; Cuzzoni MG; Picchioni A; Calchetti B; Notturno F; Di Lisi F; Forlivesi S; Delodovici ML; Buechner SC; Biagini S; Accavone D; Manna R; Morrone A; Inzitari D
J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
[TBL] [Abstract][Full Text] [Related]
6. Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
Chiang HL; Wang NH; Song IW; Chang CP; Wen MS; Chien YH; Hwu WL; Tsai FJ; Chen YT; Wu JY
Mol Genet Metab; 2017 May; 121(1):22-27. PubMed ID: 28377241
[TBL] [Abstract][Full Text] [Related]
7. [Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].
Ge ZH; Lu ZH; Pan XD; Lai TT; Yang MJ; Yang HQ; Zhang HB; Li GY; Dai ZQ; Mao JH
Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):345-350. PubMed ID: 38527505
[No Abstract] [Full Text] [Related]
8. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
Baptista MV; Ferreira S; Pinho-E-Melo T; Carvalho M; Cruz VT; Carmona C; Silva FA; Tuna A; Rodrigues M; Ferreira C; Pinto AA; Leitão A; Gabriel JP; Calado S; Oliveira JP; Ferro JM;
Stroke; 2010 Mar; 41(3):431-6. PubMed ID: 20110537
[TBL] [Abstract][Full Text] [Related]
9. Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke.
Dubuc V; Moore DF; Gioia LC; Saposnik G; Selchen D; Lanthier S
J Stroke Cerebrovasc Dis; 2013 Nov; 22(8):1288-92. PubMed ID: 23168217
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23219219
[TBL] [Abstract][Full Text] [Related]
11. Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Song X; Xue S; Zhao J; Wu J
Int J Neurosci; 2017 Apr; 127(4):350-355. PubMed ID: 26981927
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20821055
[TBL] [Abstract][Full Text] [Related]
13. The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya.
Gündoğdu AA; Kotan D; Alemdar M
J Stroke Cerebrovasc Dis; 2017 Jun; 26(6):1334-1340. PubMed ID: 28283366
[TBL] [Abstract][Full Text] [Related]
14. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
Liang KH; Lu YH; Niu CW; Chang SK; Chen YR; Cheng CY; Hsu TR; Yang CF; Nakamura K; Niu DM
J Hum Genet; 2020 Jul; 65(7):619-625. PubMed ID: 32246049
[TBL] [Abstract][Full Text] [Related]
15. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Wozniak MA; Kittner SJ; Tuhrim S; Cole JW; Stern B; Dobbins M; Grace ME; Nazarenko I; Dobrovolny R; McDade E; Desnick RJ
Stroke; 2010 Jan; 41(1):78-81. PubMed ID: 20007919
[TBL] [Abstract][Full Text] [Related]
16. 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; 426():114-20. PubMed ID: 24055776
[TBL] [Abstract][Full Text] [Related]
17. Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease.
Hwu WL
J Formos Med Assoc; 2024 Jul; 123(7):738-743. PubMed ID: 37833114
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 20031620
[TBL] [Abstract][Full Text] [Related]
19. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
Lee HJ; Hsu TR; Hung SC; Yu WC; Chu TH; Yang CF; Bizjajeva S; Tiu CM; Niu DM
BMC Neurol; 2017 Feb; 17(1):25. PubMed ID: 28166746
[TBL] [Abstract][Full Text] [Related]
20. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic
Doheny D; Srinivasan R; Pagant S; Chen B; Yasuda M; Desnick RJ
J Med Genet; 2018 Apr; 55(4):261-268. PubMed ID: 29330335
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]