410 related articles for article (PubMed ID: 28798024)
1. 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
Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28798024
[TBL] [Abstract][Full Text] [Related]
2. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Maron MS; Xin W; Sims KB; Butler R; Haas TS; Rowin EJ; Desnick RJ; Maron BJ
Am J Med; 2018 Feb; 131(2):200.e1-200.e8. PubMed ID: 28943383
[TBL] [Abstract][Full Text] [Related]
3. Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O; Gal A; Faria R; Gaspar P; Miltenberger-Miltenyi G; Gago MF; Dias F; Martins A; Rodrigues J; Reimão P; Pereira O; Simões S; Lopes E; Guimarães MJ; Sousa N; Cunha D
Mol Genet Metab; 2020 Feb; 129(2):150-160. PubMed ID: 31519519
[TBL] [Abstract][Full Text] [Related]
4. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].
Liu HJ; Cao KJ; Li CR; Dai J; Ma JZ; Yong YH; Sun W
Zhonghua Xin Xue Guan Bing Za Zhi; 2006 Feb; 34(2):143-7. PubMed ID: 16626582
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).
Nakagawa N; Maruyama H; Ishihara T; Seino U; Kawabe J; Takahashi F; Kobayashi M; Yamauchi A; Sasaki Y; Sakamoto N; Ota H; Tanabe Y; Takeuchi T; Takenaka T; Kikuchi K; Hasebe N
Int Heart J; 2011; 52(5):308-11. PubMed ID: 22008442
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
Teragaki M; Tanaka A; Akioka K; Lan HT; Nishi Y; Yamano T; Yoshikawa J
Jpn Heart J; 2004 Jul; 45(4):685-9. PubMed ID: 15353880
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.
Chimenti C; Pieroni M; Morgante E; Antuzzi D; Russo A; Russo MA; Maseri A; Frustaci A
Circulation; 2004 Aug; 110(9):1047-53. PubMed ID: 15313943
[TBL] [Abstract][Full Text] [Related]
9. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.
Fukutomi M; Tanaka N; Uchinoumi H; Kanemoto M; Nakao F; Yamada J; Kamei T; Takenaka T; Fujii T
J Cardiol; 2013 Jul; 62(1):63-9. PubMed ID: 23608164
[TBL] [Abstract][Full Text] [Related]
10. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
[TBL] [Abstract][Full Text] [Related]
11. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Chaves-Markman ÂV; Markman M; Calado EB; Pires RF; Santos-Veloso MAO; Pereira CMF; Lordsleem ABMDS; Lima SG; Markman Filho B; Oliveira DC
Arq Bras Cardiol; 2019 Jul; 113(1):77-84. PubMed ID: 31291414
[TBL] [Abstract][Full Text] [Related]
12. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS; Bento JCB; Pereira RMR
Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
[TBL] [Abstract][Full Text] [Related]
13. Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.
Rickert V; Wagenhäuser L; Nordbeck P; Wanner C; Sommer C; Rost S; Üçeyler N
J Intern Med; 2020 Nov; 288(5):593-604. PubMed ID: 32583479
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
[TBL] [Abstract][Full Text] [Related]
16. Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Lenders M; Weidemann F; Kurschat C; Canaan-Kühl S; Duning T; Stypmann J; Schmitz B; Reiermann S; Krämer J; Blaschke D; Wanner C; Brand SM; Brand E
Orphanet J Rare Dis; 2016 May; 11(1):54. PubMed ID: 27142856
[TBL] [Abstract][Full Text] [Related]
17. Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L; Thomas AS; Beaton B; Ebrahim H; Reed M; Ramaswami U; Elliott P; Mehta AB; Hughes DA
PLoS One; 2018; 13(4):e0193550. PubMed ID: 29621274
[TBL] [Abstract][Full Text] [Related]
18. Late-onset Fabry disease: the cardiac sequela.
Tremblay J; Kim S; Philbin E; Beers K; Lightle A; Belov D
BMJ Case Rep; 2022 Jun; 15(6):. PubMed ID: 35680278
[TBL] [Abstract][Full Text] [Related]
19. Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Oder D; Liu D; Üçeyler N; Sommer C; Hu K; Salinger T; Müntze J; Petritsch B; Ertl G; Wanner C; Nordbeck P; Weidemann F
Medicine (Baltimore); 2018 May; 97(21):e10669. PubMed ID: 29794742
[TBL] [Abstract][Full Text] [Related]
20. De novo mutation in a male patient with Fabry disease: a case report.
Iemolo F; Pizzo F; Albeggiani G; Zizzo C; Colomba P; Scalia S; Bartolotta C; Duro G
BMC Res Notes; 2014 Jan; 7():11. PubMed ID: 24398019
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
