The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Orphanet Journal Of Rare Diseases
Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R
Publication Date: 2023-01-09
Variant appearance in text: GLA: 376A>G; Ser126Gly
Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.
Esc Heart Failure
Zemánek, David D; Januška, Jaroslav J; Honěk, Tomáš T; Čurila, Karol K; Kubánek, Miloš M; Šindelářová, Štěpánka Š; Zahálková, Lucie L; Klofáč, Petr P; Laštůvková, Eliška E; Lichnerová, Eva E; Aiglová, Renata R; Lhotský, Jan J; Vondrák, Jiří J; Dostálová, Gabriela G; Táborský, Miloš M; Kasper, David D; Linhart, Aleš A
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.
Biomedicines
Veroux, Massimiliano M; Monte, Ines P IP; Rodolico, Margherita S MS; Corona, Daniela D; Bella, Rita R; Basile, Antonio A; Palmucci, Stefano S; Pistorio, Maria L ML; Lanza, Giuseppe G; De Pasquale, Concetta C; Veroux, Pierfrancesco P
Publication Date: 2020-10-07
Variant appearance in text: GLA: 376A>G; Ser126Gly
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Journal Of Medical Genetics
Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.
Scientific Reports
Hernández-Romero, Diana D; Sánchez-Quiñones, Jessica J; Vílchez, Juan Antonio JA; Rivera-Caravaca, José Miguel JM; de la Morena, Gonzalo G; Lip, Gregory Y H GYH; Climent, Vicente V; Marín, Francisco F
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Clinical Genetics
Germain, Dominique P DP; Fouilhoux, Alain A; Decramer, Stéphane S; Tardieu, Marine M; Pillet, Pascal P; Fila, Marc M; Rivera, Serge S; Deschênes, Georges G; Lacombe, Didier D
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Newborn screening for Fabry disease in the north-west of Spain.
European Journal Of Pediatrics
Colon, Cristobal C; Ortolano, Saida S; Melcon-Crespo, Cristina C; Alvarez, Jose V JV; Lopez-Suarez, Olalla E OE; Couce, Maria L ML; Fernández-Lorenzo, José R JR
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
International Journal Of Molecular Sciences
Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
Plos One
de Greef, Bianca T A BT; Hoeijmakers, Janneke G J JG; Wolters, Emma E EE; Smeets, Hubertus J M HJ; van den Wijngaard, Arthur A; Merkies, Ingemar S J IS; Faber, Catharina G CG; Gerrits, Monique M MM
Publication Date: 2016
Variant appearance in text: GLA: 376A>G; Ser126Gly
Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
Bmc Neurology
Fancellu, Laura L; Borsini, Walter W; Romani, Ilaria I; Pirisi, Angelo A; Deiana, Giovanni Andrea GA; Sechi, Elia E; Doneddu, Pietro Emiliano PE; Rassu, Anna Laura AL; Demurtas, Rita R; Scarabotto, Anna A; Cassini, Pamela P; Arbustini, Eloisa E; Sechi, GianPietro G
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
Plos One
Böttcher, Tobias T; Rolfs, Arndt A; Tanislav, Christian C; Bitsch, Andreas A; Köhler, Wolfgang W; Gaedeke, Jens J; Giese, Anne-Katrin AK; Kolodny, Edwin H EH; Duning, Thomas T