These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females. Stiles AR; Zhang H; Dai J; McCaw P; Beasley J; Rehder C; Koeberl DD; McDonald M; Bali DS; Young SP Mol Genet Metab; 2020 Jul; 130(3):209-214. PubMed ID: 32418857 [TBL] [Abstract][Full Text] [Related]
5. Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy. Yamashita S; Saotome M; Satoh H; Kajihara J; Mochizuki Y; Mizuno K; Nobuhara M; Miyajima K; Kumazawa A; Tominaga H; Takase H; Tawarahara K; Wakahara N; Matsunaga M; Wakabayashi Y; Matsumoto Y; Terada H; Sano M; Ohtani H; Urushida T; Hayashi H; Ishii S; Maruyama H; Maekawa Y Circ J; 2019 Aug; 83(9):1901-1907. PubMed ID: 31308318 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study. Lin Z; Zhang X; Liu Y; Miao D; Zhang H; Zhang T; Zhang F; Li P; Dai H; Jiang G; Zhang D; Zhong L; Lu H; Ji X ESC Heart Fail; 2024 Dec; 11(6):4381-4389. PubMed ID: 39225306 [TBL] [Abstract][Full Text] [Related]
9. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing. Delarosa-Rodríguez R; Santotoribio JD; Paula HA; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381 [TBL] [Abstract][Full Text] [Related]
11. Prevalence of Fabry Disease in Patients on Dialysis in France. Sens F; Guittard L; Knebelmann B; Moranne O; Choukroun G; de Précigout V; Couchoud C; Deleruyelle I; Lancelot L; Tran Thi Phuong L; Ghafari T; Fabrydial Study Group ; Juillard L; Germain DP Int J Mol Sci; 2024 Sep; 25(18):. PubMed ID: 39337589 [TBL] [Abstract][Full Text] [Related]
12. A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. Talbot A; Nicholls K; Fletcher JM; Fuller M Mol Genet Metab; 2017 Sep; 122(1-2):121-125. PubMed ID: 28847675 [TBL] [Abstract][Full Text] [Related]
13. [Screening Test of Fabry Disease in Patients with Renal Replacement Therapy in the City of Modena]. Alfano G; Ganda N; Cerami C; Mori G; Fontana F; Cappelli G G Ital Nefrol; 2018 Mar; 35(2):. PubMed ID: 29582965 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. Mallett A; Kearey P; Cameron A; Healy H; Denaro C; Thomas M; Lee VW; Stark S; Fuller M; Hoy WE BMC Nephrol; 2020 Feb; 21(1):58. PubMed ID: 32087678 [TBL] [Abstract][Full Text] [Related]
16. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. Smid BE; Hollak CE; Poorthuis BJ; van den Bergh Weerman MA; Florquin S; Kok WE; Lekanne Deprez RH; Timmermans J; Linthorst GE Clin Genet; 2015 Aug; 88(2):161-6. PubMed ID: 25040344 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Late-onset and classic phenotypes of Fabry disease in males with the Valtola K; Hedman M; Kantola I; Walls S; Helisalmi S; Maria M; Raivo J; Auray-Blais C; Kuusisto J Open Heart; 2023 Mar; 10(1):. PubMed ID: 36927868 [TBL] [Abstract][Full Text] [Related]
19. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Maruyama H; Miyata K; Mikame M; Taguchi A; Guili C; Shimura M; Murayama K; Inoue T; Yamamoto S; Sugimura K; Tamita K; Kawasaki T; Kajihara J; Onishi A; Sugiyama H; Sakai T; Murata I; Oda T; Toyoda S; Hanawa K; Fujimura T; Ura S; Matsumura M; Takano H; Yamashita S; Matsukura G; Tazawa R; Shiga T; Ebato M; Satoh H; Ishii S Genet Med; 2019 Jan; 21(1):44-52. PubMed ID: 29543226 [TBL] [Abstract][Full Text] [Related]
20. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease. Silva CAB; de Carvalho Barreto F; Neto OMV; Lucca LJ; Vieira FA; Gueiros APS; Boger MV; Silva AQ; Guedes FL; Israel KCP; Gordon GEM; Veloso VSP; Sevignani G; Barretto CT; Rosa MG; Pascotto RC; Ennes GS; da Silva Montenegro Malaguti Souza EM; Ribeiro MG; de Andrade LGM Mol Genet Metab; 2024; 143(1-2):108565. PubMed ID: 39182416 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]