235 related articles for article (PubMed ID: 16626582)
1. [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]
2. 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]
3. 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]
4. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
[TBL] [Abstract][Full Text] [Related]
5. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
6. Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
Verovnik F; Benko D; Vujkovac B; Linthorst GE
Eur J Hum Genet; 2004 Aug; 12(8):678-81. PubMed ID: 15162124
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Clinical and molecular characterization of an extended family with Fabry disease.
Wattanasirichaigoon D; Svasti J; Cairns JR; Tangnararatchakit K; Visudtibhan A; Keeratichamroen S; Ngiwsara L; Khowsathit P; Onkoksoong T; Lekskul A; Mongkolsiri D; Jariengprasert C; Thawil C; Ruencharoen S
J Med Assoc Thai; 2006 Sep; 89(9):1528-35. PubMed ID: 17100396
[TBL] [Abstract][Full Text] [Related]
14. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
[TBL] [Abstract][Full Text] [Related]
19. [Genetic and clinical study of three Chinese pedigrees with Fabry disease].
Tian ML; Yan YL; Xiong JC; Liu XX; Yang Y; Hu ZX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):185-8. PubMed ID: 23568732
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
