277 related articles for article (PubMed ID: 31213654)
1. High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Nakagawa N; Sawada J; Sakamoto N; Takeuchi T; Takahashi F; Maruyama JI; Momosaki K; Nakamura K; Endo F; Hasebe N
J Hum Genet; 2019 Sep; 64(9):891-898. PubMed ID: 31213654
[TBL] [Abstract][Full Text] [Related]
2. Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Faro DC; Losi V; Rodolico MS; Torrisi EM; Colomba P; Duro G; Monte IP
Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761944
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
Caetano F; Botelho A; Mota P; Silva J; Leitão Marques A
Rev Port Cardiol; 2014 Mar; 33(3):183.e1-5. PubMed ID: 24661928
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.
Zhou C; Huang J; Cui G; Zeng H; Wang DW; Zhou Q
BMC Med Genet; 2018 Dec; 19(1):219. PubMed ID: 30587147
[TBL] [Abstract][Full Text] [Related]
6. Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation.
Baptista A; Magalhães P; Leão S; Carvalho S; Mateus P; Moreira I
Arq Bras Cardiol; 2015 Aug; 105(2):139-44. PubMed ID: 26269958
[TBL] [Abstract][Full Text] [Related]
7. Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.
Oikawa M; Sakamoto N; Kobayashi A; Suzuki S; Yoshihisa A; Yamaki T; Nakazato K; Suzuki H; Saitoh S; Kiko Y; Nakano H; Hayashi T; Kimura A; Takeishi Y
BMC Cardiovasc Disord; 2016 May; 16():83. PubMed ID: 27160240
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Anderson-Fabry disease: a multiorgan disease.
Tuttolomondo A; Pecoraro R; Simonetta I; Miceli S; Pinto A; Licata G
Curr Pharm Des; 2013; 19(33):5974-96. PubMed ID: 23448451
[TBL] [Abstract][Full Text] [Related]
11. 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
Kidney Int; 2003 Sep; 64(3):801-7. PubMed ID: 12911529
[TBL] [Abstract][Full Text] [Related]
12. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
[TBL] [Abstract][Full Text] [Related]
13. [Evaluation of patients with Fabry disease in Argentina].
AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales)
Medicina (B Aires); 2010; 70(1):37-43. PubMed ID: 20228022
[TBL] [Abstract][Full Text] [Related]
14. Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Favalli V; Disabella E; Molinaro M; Tagliani M; Scarabotto A; Serio A; Grasso M; Narula N; Giorgianni C; Caspani C; Concardi M; Agozzino M; Giordano C; Smirnova A; Kodama T; Giuliani L; Antoniazzi E; Borroni RG; Vassallo C; Mangione F; Scelsi L; Ghio S; Pellegrini C; Zedde M; Fancellu L; Sechi G; Ganau A; Piga S; Colucci A; Concolino D; Di Mascio MT; Toni D; Diomedi M; Rapezzi C; Biagini E; Marini M; Rasura M; Melis M; Nucera A; Guidetti D; Mancuso M; Scoditti U; Cassini P; Narula J; Tavazzi L; Arbustini E
J Am Coll Cardiol; 2016 Sep; 68(10):1037-50. PubMed ID: 27585509
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
San Román-Monserrat I; Moreno-Flores V; López-Cuenca D; Rodríguez-González-Herrero E; Guillén-Navarro E; Rodríguez-González-Herrero B; Alegría-Fernández M; Poza-Cisneros G; Piñero-Fernández JA; Sornichero-Martínez J; Gimeno-Blanes JR
Med Clin (Barc); 2014 Jun; 142(11):497-504. PubMed ID: 24679964
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients.
Prota C; Ferraioli D; Iuliano G; Pucci M; Radano I; Bottiglieri P; Favalli V; Pieruzzi F; Galasso G; Vecchione C; Citro R
J Cardiovasc Med (Hagerstown); 2021 Jan; 22(1):59-62. PubMed ID: 33283995
[No Abstract] [Full Text] [Related]
17. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln
Blanco R; Rico-Ramírez Y; Hermida-Ameijeiras Á; Abdullah IMS; Lau K; Alvarez-Rubio J; Fortuny E; Martínez-Monzonís A; Nowak A; Nordbeck P; Veras-Burgos C; Pons-Llinares J; Rossi E; Caimi-Martínez F; Bosch-Rovira T; Alamar-Cervera M; Ruiz-Pizarro V; Torres-Juan L; Heine-Suñer D; Ripoll-Vera T
Int J Mol Sci; 2024 Apr; 25(8):. PubMed ID: 38673884
[TBL] [Abstract][Full Text] [Related]
18. A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
Veloso VSP; Ataides TL; Canziani MEF; Veloso MP; da Silva NA; Barreto DV; Pereira ERS; de Moura LAR; Barreto FC
Nephron; 2018; 138(2):147-156. PubMed ID: 28892806
[TBL] [Abstract][Full Text] [Related]
19. Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.
Sadasivan C; Chow JTY; Sheng B; Chan DKH; Fan Y; Choi PCL; Wong JKT; Tong MMB; Chan TN; Fung E; Kam KKH; Chan JYS; Chi WK; Paterson DI; Senaratne M; Brass N; Oudit GY; Lee APW
PLoS One; 2020; 15(9):e0239675. PubMed ID: 32987398
[TBL] [Abstract][Full Text] [Related]
20. p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.
Nakamura K; Sekijima Y; Nakamura K; Hattori K; Nagamatsu K; Shimizu Y; Yazaki M; Sakurai A; Endo F; Fukushima Y; Ikeda SI
Eur J Neurol; 2014; 21(1):49-56. PubMed ID: 23724928
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]