300 related articles for article (PubMed ID: 20122163)
1. Frequency of Fabry disease in male and female haemodialysis patients in Spain.
Gaspar P; Herrera J; Rodrigues D; Cerezo S; Delgado R; Andrade CF; Forascepi R; Macias J; del Pino MD; Prados MD; de Alegria PR; Torres G; Vidau P; Sá-Miranda MC
BMC Med Genet; 2010 Feb; 11():19. PubMed ID: 20122163
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Fabry disease due to D313Y and novel GLA mutations.
Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
[TBL] [Abstract][Full Text] [Related]
4. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Prevalence of Fabry's disease within hemodialysis patients in Spain.
Herrera J; Miranda CS
Clin Nephrol; 2014 Feb; 81(2):112-20. PubMed ID: 24365053
[TBL] [Abstract][Full Text] [Related]
8. Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A; Petra R; Paulasová Schwabová J; Olšerová A; Škorňa M; Nevšímalová M; Šimůnek L; Herzig R; Fafejtová Š; Mikulenka P; Táboříková A; Neumann J; Brzezny R; Sobolová H; Bartoník J; Václavík D; Vachová M; Bechyně K; Havlíková H; Prax T; Šaňák D; Černíková I; Ondečková I; Procházka P; Rajner J; Škoda M; Novák J; Škoda O; Bar M; Mikulík R; Dostálová G; Linhart A;
PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
[TBL] [Abstract][Full Text] [Related]
10. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
Okur I; Ezgu F; Biberoglu G; Tumer L; Erten Y; Isitman M; Eminoglu FT; Hasanoglu A
Gene; 2013 Sep; 527(1):42-7. PubMed ID: 23756194
[TBL] [Abstract][Full Text] [Related]
11. Newborn screening for Fabry disease in the north-west of Spain.
Colon C; Ortolano S; Melcon-Crespo C; Alvarez JV; Lopez-Suarez OE; Couce ML; Fernández-Lorenzo JR
Eur J Pediatr; 2017 Aug; 176(8):1075-1081. PubMed ID: 28646478
[TBL] [Abstract][Full Text] [Related]
12. The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt L; Ballegaard M; Bundgaard H; Christiansen M; Law I; Lund AM; Norremolle A; Krogh Rasmussen A; Ravn K; Tumer Z; Wibrand F; Feldt-Rasmussen U
Scand J Clin Lab Invest; 2017 Dec; 77(8):617-621. PubMed ID: 29037082
[TBL] [Abstract][Full Text] [Related]
13. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH; Lee BH; Heo SH; Kim GH; Kim YM; Kim DS; Ko JM; Sohn YB; Hong YH; Lee DH; Kook H; Lim HH; Kim KH; Kim WS; Hong GR; Kim SH; Park SH; Kim CD; Kim SM; Seo JS; Yoo HW
Medicine (Baltimore); 2017 Jul; 96(29):e7387. PubMed ID: 28723748
[TBL] [Abstract][Full Text] [Related]
14. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
15. The mutation p.D313Y is associated with organ manifestation in Fabry disease.
du Moulin M; Koehn AF; Golsari A; Dulz S; Atiskova Y; Patten M; Münch J; Avanesov M; Ullrich K; Muschol N
Clin Genet; 2017 Nov; 92(5):528-533. PubMed ID: 28276057
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Fabry disease: Review and experience during newborn screening.
Hsu TR; Niu DM
Trends Cardiovasc Med; 2018 May; 28(4):274-281. PubMed ID: 29100912
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
