336 related articles for article (PubMed ID: 20498269)
1. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
Havndrup O; Christiansen M; Stoevring B; Jensen M; Hoffman-Bang J; Andersen PS; Hasholt L; Nørremølle A; Feldt-Rasmussen U; Køber L; Bundgaard H
Eur J Heart Fail; 2010 Jun; 12(6):535-40. PubMed ID: 20498269
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.
Hagège AA; Caudron E; Damy T; Roudaut R; Millaire A; Etchecopar-Chevreuil C; Tran TC; Jabbour F; Boucly C; Prognon P; Charron P; Germain DP;
Heart; 2011 Jan; 97(2):131-6. PubMed ID: 21062768
[TBL] [Abstract][Full Text] [Related]
4. Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
Beer G; Reinecke P; Gabbert HE; Hort W; Kuhn H
Z Kardiol; 2002 Dec; 91(12):992-1002. PubMed ID: 12490989
[TBL] [Abstract][Full Text] [Related]
5. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
Monserrat L; Gimeno-Blanes JR; Marín F; Hermida-Prieto M; García-Honrubia A; Pérez I; Fernández X; de Nicolas R; de la Morena G; Payá E; Yagüe J; Egido J
J Am Coll Cardiol; 2007 Dec; 50(25):2399-403. PubMed ID: 18154965
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
Yoshimitsu M; Higuchi K; Miyata M; Devine S; Mattman A; Sirrs S; Medin JA; Tei C; Takenaka T
J Cardiol; 2011 May; 57(3):345-53. PubMed ID: 21333496
[TBL] [Abstract][Full Text] [Related]
8. A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Al-Thihli K; Ebrahim H; Hughes DA; Patel M; Tipple M; Salvarinova R; Gardiner J; Vallance H; Waters PJ
Gene; 2012 Apr; 497(2):320-2. PubMed ID: 22336178
[TBL] [Abstract][Full Text] [Related]
9. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.
Linthorst GE; Poorthuis BJ; Hollak CE
J Am Coll Cardiol; 2008 May; 51(21):2082; author reply 2082-3. PubMed ID: 18498967
[No Abstract] [Full Text] [Related]
10. Cardiac challenges in patients with Fabry disease.
Weidemann F; Linhart A; Monserrat L; Strotmann J
Int J Cardiol; 2010 May; 141(1):3-10. PubMed ID: 19720409
[TBL] [Abstract][Full Text] [Related]
11. [Fabry disease: data from four families].
Slee PH; van Boven LJ; Slee DS
Ned Tijdschr Geneeskd; 2000 Dec; 144(50):2412-5. PubMed ID: 11145098
[TBL] [Abstract][Full Text] [Related]
12. Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
Arad M; Maron BJ; Gorham JM; Johnson WH; Saul JP; Perez-Atayde AR; Spirito P; Wright GB; Kanter RJ; Seidman CE; Seidman JG
N Engl J Med; 2005 Jan; 352(4):362-72. PubMed ID: 15673802
[TBL] [Abstract][Full Text] [Related]
13. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
Elliott P; Baker R; Pasquale F; Quarta G; Ebrahim H; Mehta AB; Hughes DA;
Heart; 2011 Dec; 97(23):1957-60. PubMed ID: 21890869
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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]
16. [Cardiological follow-up in patients with Fabry disease].
Pieruzzi F; Pieroni M; Chimenti C; Frustaci A; Sarais C; Cecchi F;
G Ital Cardiol (Rome); 2010; 11(7-8):566-72. PubMed ID: 21033333
[TBL] [Abstract][Full Text] [Related]
17. Fabry's disease with LVOT obstruction: diagnosis and management.
Blount JR; Wu JK; Martinez MW
J Card Surg; 2013 Nov; 28(6):695-8. PubMed ID: 23992477
[TBL] [Abstract][Full Text] [Related]
18. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
Sheth KJ; Good TA; Murphy JV
Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191
[TBL] [Abstract][Full Text] [Related]
19. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
Choi JS; Kim CS; Park JW; Bae EH; Ma SK; Choi YD; Kim GH; Yoo HW; Kim SW
Ren Fail; 2012; 34(3):390-3. PubMed ID: 22260214
[TBL] [Abstract][Full Text] [Related]
20. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH; Heo SH; Kim GH; Park JY; Kim WS; Kang DH; Choe KH; Kim WH; Yang SH; Yoo HW
J Hum Genet; 2010 Aug; 55(8):512-7. PubMed ID: 20505683
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
