Publications:

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Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.

Frontiers In Genetics

Ponleitner, Markus M; Allmer, Daniela Maria DM; Hecking, Manfred M; Gatterer, Constantin C; Graf, Senta S; Smogavec, Mateja M; Laccone, Franco F; Rommer, Paulus Stefan PS; Sunder-Plassmann, Gere G

Publication Date: 2023

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 37323669

Variant Present in the following documents:

• Main text
• fgene-14-1211858.pdf

View BVdb publication page

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Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report.

European Heart Journal. Case Reports

Bei, Evangelia E; Antonopoulos, Alexios S AS; Tsivgoulis, Georgios G; Vlachopoulos, Charalambos C

Publication Date: 2023-05

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 37201153

Variant Present in the following documents:

• Main text
• ytad224.pdf

View BVdb publication page

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Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain.

Scientific Reports

Avanesov, Maxim M; Asgari, Anahid A; Muschol, Nicole N; Köhn, Anja Friederike AF; Tahir, Enver E; Adam, Gerhard G; Kirchhof, Paulus P; Lund, Gunnar G; Cavus, Ersin E; Patten, Monica M

Publication Date: 2023-04-10

Variant appearance in text: GLA: D313Y

PubMed Link: 37037838

Variant Present in the following documents:

• Main text
• 41598_2023_Article_32464.pdf

View BVdb publication page

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The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.

Anatolian Journal Of Cardiology

Özpelit, Ebru E; Çavuşoğlu, Yüksel Y; Yorgun, Hikmet H; Ökçün, Emir Özgür Barış EÖB; Eker Akıllı, Rabia R; Çelik, Ahmet A; Ermiş, Necip N; Gerede Uludağ, Demet Menekşe DM; Kahveci, Gokhan G; Uslu Çil, Şefika Ş; Erfidan, Erkan E; Tufekcioglu, Omaç O

Publication Date: 2023-04

Variant appearance in text: GLA: 937G>T; D313Y; rs28935490

PubMed Link: 36995061

Variant Present in the following documents:

• Main text
• ajc-27-4-223.pdf

View BVdb publication page

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Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology.

International Journal Of Molecular Sciences

Grasso, Daniela D; Galderisi, Silvia S; Santucci, Annalisa A; Bernini, Andrea A

Publication Date: 2023-03-18

Variant appearance in text: GLA: D313Y

PubMed Link: 36982893

Variant Present in the following documents:

• Main text
• ijms-24-05819.pdf

View BVdb publication page

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Speckle tracking echocardiography-derived parameters as new prognostic markers in hypertrophic cardiomyopathies.

European Heart Journal Open

Faro, Denise Cristiana DC; Losi, Valentina V; Rodolico, Margherita Stefania MS; Licciardi, Salvatore S; Monte, Ines Paola IP

Publication Date: 2023-03

Variant appearance in text: GLA: D313Y

PubMed Link: 36936390

Variant Present in the following documents:

• Main text
• oead014.pdf

View BVdb publication page

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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: 937G>T; Asp313Tyr

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: D313Y

PubMed Link: 36383556

Variant Present in the following documents:

• pone.0277767.pdf

View BVdb publication page

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An Overview of Molecular Mechanisms in Fabry Disease.

Biomolecules

Amodio, Federica F; Caiazza, Martina M; Monda, Emanuele E; Rubino, Marta M; Capodicasa, Laura L; Chiosi, Flavia F; Simonelli, Vincenzo V; Dongiglio, Francesca F; Fimiani, Fabio F; Pepe, Nicola N; Chimenti, Cristina C; Calabrò, Paolo P; Limongelli, Giuseppe G

Publication Date: 2022-10-12

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 36291669

Variant Present in the following documents:

• Main text
• biomolecules-12-01460.pdf

View BVdb publication page

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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

Publication Date: 2022-09-10

Variant appearance in text: GLA: D313Y

PubMed Link: 36087038

Variant Present in the following documents:

• Main text
• EHF2-9-4160.pdf

View BVdb publication page

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Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.

Journal Of Clinical Medicine

Cybulla, Markus M; Nicholls, Kathleen K; Feriozzi, Sandro S; Linhart, Aleš A; Torras, Joan J; Vujkovac, Bojan B; Botha, Jaco J; Anagnostopoulou, Christina C; West, Michael L ML; ,

Publication Date: 2022-08-17

Variant appearance in text: GLA: D313Y

PubMed Link: 36013057

Variant Present in the following documents:

• Main text
• jcm-11-04810.pdf

View BVdb publication page

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Dorsal Root Ganglia Volume-Normative Values, Correlation with Demographic Determinants and Reliability of Three Different Methods of Volumetry.

Diagnostics (Basel, Switzerland)

Kronlage, Moritz M; Fischer, Thomas David TD; Behnisch, Rouven R; Schwarz, Daniel D; Bäumer, Philipp P; Schwehr, Veronique V; Heiland, Sabine S; Bendszus, Martin M; Godel, Tim T

Publication Date: 2022-06-28

Variant appearance in text: GLA: D313Y

PubMed Link: 35885475

Variant Present in the following documents:

• diagnostics-12-01570.pdf

View BVdb publication page

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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Journal Of Personalized Medicine

Jurickova, Katarina K; Jungova, Petra P; Petrovic, Robert R; Mattosova, Slavomira S; Hlavata, Tereza T; Kostalova, Ludmila L; Hlavata, Anna A

Publication Date: 2022-06-01

Variant appearance in text: GLA: D313Y

PubMed Link: 35743707

Variant Present in the following documents:

• Main text
• jpm-12-00922.pdf

View BVdb publication page

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Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

Life (Basel, Switzerland)

Monte, Marco Angelo MA; Veroux, Massimiliano M; Rodolico, Margherita Stefania MS; Losi, Valentina V; Di Pino, Luigi L; Bella, Rita R; Lanza, Giuseppe G; Monte, Ines Paola IP

Publication Date: 2022-04-22

Variant appearance in text: GLA: D313Y

PubMed Link: 35629291

Variant Present in the following documents:

• life-12-00623.pdf

View BVdb publication page

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Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

Orphanet Journal Of Rare Diseases

Ezgu, Fatih F; Alpsoy, Erkan E; Bicik Bahcebasi, Zerrin Z; Kasapcopur, Ozgur O; Palamar, Melis M; Onay, Huseyin H; Ozdemir, Binnaz Handan BH; Topcuoglu, Mehmet Akif MA; Tufekcioglu, Omac O

Publication Date: 2022-03-02

Variant appearance in text: GLA: D313Y

PubMed Link: 35236382

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2215.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GLA: D313Y; rs28935490

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Prevalence of Fabry Disease among Patients with Parkinson's Disease.

Parkinson'S Disease

Lackova, Alexandra A; Beetz, Christian C; Oppermann, Sebastian S; Bauer, Peter P; Pavelekova, Petra P; Lorincova, Tatiana T; Ostrozovicova, Miriam M; Kulcsarova, Kristina K; Cobejova, Jana J; Cobej, Martin M; Levicka, Petra P; Liesenerova, Simona S; Sendekova, Daniela D; Sukovska, Viktoria V; Gdovinova, Zuzana Z; Han, Vladimir V; Rizig, Mie M; Houlden, Henry H; Skorvanek, Matej M

Publication Date: 2022

Variant appearance in text: GLA: 937G>T; Asp313Tyr

PubMed Link: 35111290

Variant Present in the following documents:

• PD2022-1014950.pdf

View BVdb publication page

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Nationwide screening for Fabry disease in unselected stroke patients.

Plos One

Tomek, Aleš A; Petra, Reková R; Paulasová Schwabová, Jaroslava J; Olšerová, Anna A; Škorňa, Miroslav M; Nevšímalová, Miroslava M; Šimůnek, Libor L; Herzig, Roman R; Fafejtová, Štěpánka Š; Mikulenka, Petr P; Táboříková, Alena A; Neumann, Jiří J; Brzezny, Richard R; Sobolová, Helena H; Bartoník, Jan J; Václavík, Daniel D; Vachová, Marta M; Bechyně, Karel K; Havlíková, Hana H; Prax, Tomáš T; Šaňák, Daniel D; Černíková, Irena I; Ondečková, Iva I; Procházka, Petr P; Rajner, Jan J; Škoda, Miroslav M; Novák, Jan J; Škoda, Ondřej O; Bar, Michal M; Mikulík, Robert R; Dostálová, Gabriela G; Linhart, Aleš A; ,

Publication Date: 2021

Variant appearance in text: GLA: 937G>T; Asp313Tyr; rs28935490

PubMed Link: 34905550

Variant Present in the following documents:

• Main text
• pone.0260601.pdf

View BVdb publication page

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Nationwide screening for Fabry disease in unselected stroke patients.

Plos One

Tomek, Aleš A; Petra, Reková R; Paulasová Schwabová, Jaroslava J; Olšerová, Anna A; Škorňa, Miroslav M; Nevšímalová, Miroslava M; Šimůnek, Libor L; Herzig, Roman R; Fafejtová, Štěpánka Š; Mikulenka, Petr P; Táboříková, Alena A; Neumann, Jiří J; Brzezny, Richard R; Sobolová, Helena H; Bartoník, Jan J; Václavík, Daniel D; Vachová, Marta M; Bechyně, Karel K; Havlíková, Hana H; Prax, Tomáš T; Šaňák, Daniel D; Černíková, Irena I; Ondečková, Iva I; Procházka, Petr P; Rajner, Jan J; Škoda, Miroslav M; Novák, Jan J; Škoda, Ondřej O; Bar, Michal M; Mikulík, Robert R; Dostálová, Gabriela G; Linhart, Aleš A; ,

Publication Date: 2021

Variant appearance in text: GLA: 937G>T; Asp313Tyr; rs28935490

PubMed Link: 34905550

Variant Present in the following documents:

• Main text
• pone.0260601.pdf

View BVdb publication page

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A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3).

Molecules (Basel, Switzerland)

Perrone, Alessandro A; Mohamed, Susan S; Donadio, Vincenzo V; Liguori, Rocco R; Contin, Manuela M

Publication Date: 2021-12-03

Variant appearance in text: GLA: D313Y

PubMed Link: 34885938

Variant Present in the following documents:

• molecules-26-07358.pdf

View BVdb publication page

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A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3).

Molecules (Basel, Switzerland)

Perrone, Alessandro A; Mohamed, Susan S; Donadio, Vincenzo V; Liguori, Rocco R; Contin, Manuela M

Publication Date: 2021-12-03

Variant appearance in text: GLA: D313Y

PubMed Link: 34885938

Variant Present in the following documents:

• molecules-26-07358.pdf

View BVdb publication page

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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: D313Y

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

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Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-11-09

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

View BVdb publication page

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Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Journal Of Clinical Medicine

Reková, Petra P; Dostálová, Gabriela G; Kemlink, David D; Paulasová Schwabová, Jaroslava J; Dubská, Zora Z; Vaneckova, Manuela M; Mašek, Martin M; Kodet, Ondřej O; Poupětová, Helena H; Mazurová, Stella S; Rajdova, Aneta A; Vlckova, Eva E; Táboříková, Alena A; Fafejtová, Štěpánka Š; Nevsimalova, Miroslava M; Linhart, Aleš A; Tomek, Aleš A

Publication Date: 2021-08-12

Variant appearance in text: GLA: 937G>T; Asp313Tyr

PubMed Link: 34441839

Variant Present in the following documents:

• Main text
• jcm-10-03543.pdf

View BVdb publication page

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First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.

The American Journal Of Case Reports

Tang, Andy Sing Ong ASO; Wong, Qi Ying QY; Pao Lin Ting, Ingrid I; Selvesten, Panting P; Yeo, Siaw Tze ST; Chew, Lee Ping LP; Fam, Tem Lom TL; Tan, Clare Hui Hong CHH

Publication Date: 2021-08-06

Variant appearance in text: GLA: D313Y

PubMed Link: 34354036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-07-19

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-12-31

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

International Journal Of Molecular Sciences

Modrego, Andrea A; Amaranto, Marilla M; Godino, Agustina A; Mendoza, Rosa R; Barra, José Luis JL; Corchero, José Luis JL

Publication Date: 2021-06-17

Variant appearance in text: GLA: D313Y

PubMed Link: 34204583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Biomolecules

Gragnaniello, Vincenza V; Burlina, Alessandro P AP; Polo, Giulia G; Giuliani, Antonella A; Salviati, Leonardo L; Duro, Giovanni G; Cazzorla, Chiara C; Rubert, Laura L; Maines, Evelina E; Germain, Dominique P DP; Burlina, Alberto B AB

Publication Date: 2021-06-27

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 34199132

Variant Present in the following documents:

• Main text
• biomolecules-11-00951.pdf

View BVdb publication page

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Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.

Frontiers In Medicine

Battaglia, Yuri Y; Fiorini, Fulvio F; Azzini, Cristiano C; Esposito, Pasquale P; De Vito, Alessandro A; Granata, Antonio A; Storari, Alda A; Mignani, Renzo R

Publication Date: 2021

Variant appearance in text: GLA: D313Y

PubMed Link: 33634157

Variant Present in the following documents:

• Main text
• fmed-08-640876.pdf

View BVdb publication page

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Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T.

Diagnostics (Basel, Switzerland)

Godel, Tim T; V Cossel, Katharina K; Friedrich, Reinhard E RE; Glatzel, Markus M; Canaan-Kühl, Sima S; Duning, Thomas T; Kronlage, Moritz M; Heiland, Sabine S; Bendszus, Martin M; Muschol, Nicole N; Mautner, Victor-Felix VF

Publication Date: 2020-11-30

Variant appearance in text: GLA: D313Y

PubMed Link: 33266233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fabry disease pain: patient and preclinical parallels.

Pain

Burand, Anthony J AJ; Stucky, Cheryl L CL

Publication Date: 2021-05-01

Variant appearance in text: GLA: D313Y

PubMed Link: 33259456

Variant Present in the following documents:

• jop-162-1305.pdf

View BVdb publication page

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Biomarkers in Anderson-Fabry Disease.

International Journal Of Molecular Sciences

Simonetta, Irene I; Tuttolomondo, Antonino A; Daidone, Mario M; Pinto, Antonio A

Publication Date: 2020-10-29

Variant appearance in text: GLA: D313Y

PubMed Link: 33138098

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: GLA: 937G>T; Asp313Tyr

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

View BVdb publication page

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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: 937G>T; Asp313Tyr

PubMed Link: 33036343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: D313Y

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

View BVdb publication page

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Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.

Clinics (Sao Paulo, Brazil)

Hasbal, Nuri Baris NB; Caglayan, Feyza Bayrakdar FB; Sakaci, Tamer T; Ahbap, Elbis E; Koc, Yener Y; Sevinc, Mustafa M; Ucar, Zuhal Atan ZA; Unsal, Abdulkadir A; Basturk, Taner T

Publication Date: 2020

Variant appearance in text: GLA: D313Y

PubMed Link: 32997080

Variant Present in the following documents:

• Main text

View BVdb publication page

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: D313Y

PubMed Link: 32995357

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease.

Brain Sciences

Vagli, Carla C; Fisicaro, Francesco F; Vinciguerra, Luisa L; Puglisi, Valentina V; Rodolico, Margherita Stefania MS; Giordano, Antonello A; Ferri, Raffaele R; Lanza, Giuseppe G; Bella, Rita R

Publication Date: 2020-08-12

Variant appearance in text: GLA: D313Y

PubMed Link: 32806660

Variant Present in the following documents:

• Main text

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening

Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D

Publication Date: 2020-06

Variant appearance in text: GLA: 937G>T; D313Y

PubMed Link: 32802993

Variant Present in the following documents:

• Main text

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GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Annals Of Translational Medicine

Dong, Zhe-Yi ZY; Wang, Qian Q; Lin, Shu-Peng SP; Chen, Pu P; Liu, Jiao-Na JN; Liu, Shu-Wen SW; Cai, Guang-Yan GY; Chen, Xiang-Mei XM; Hong, Quan Q

Publication Date: 2020-07

Variant appearance in text: GLA: D313Y

PubMed Link: 32793709

Variant Present in the following documents:

• Main text

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Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal Of Neurology

Simoncini, C C; Torri, S S; Montano, V V; Chico, L L; Gruosso, F F; Tuttolomondo, A A; Pinto, A A; Simonetta, I I; Cianci, V V; Salviati, A A; Vicenzi, V V; Marchi, G G; Girelli, D D; Concolino, D D; Sestito, S S; Zedde, M M; Siciliano, G G; Mancuso, Michelangelo M

Publication Date: 2020-12

Variant appearance in text: GLA: D313Y

PubMed Link: 32719972

Variant Present in the following documents:

• Main text
• 415_2020_Article_10044.pdf

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Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus.

Archives Of Rheumatology

Kiykim, Ertugrul E; Şahİn, Sezgin S; ZubarioĞlu, Tanyel T; Barut, Kenan K; Adrovic, Amra A; Cansever, Mehmet Şerif MŞ; AktuĞlu Zeybek, Ayşe Çiğdem AÇ; KasapÇopur, Özgür Ö

Publication Date: 2020-03

Variant appearance in text: GLA: D313Y

PubMed Link: 32637914

Variant Present in the following documents:

• Main text

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Bridging the Gap Between Vessels and Nerves in Fabry Disease.

Frontiers In Neuroscience

Forstenpointner, Julia J; Sendel, Manon M; Moeller, Paul P; Reimer, Maren M; Canaan-Kühl, Sima S; Gaedeke, Jens J; Rehm, Stefanie S; Hüllemann, Philipp P; Gierthmühlen, Janne J; Baron, Ralf R

Publication Date: 2020

Variant appearance in text: GLA: 937G>T

PubMed Link: 32612493

Variant Present in the following documents:

• Main text

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Pathologic substrate of gastropathy in Anderson-Fabry disease.

Orphanet Journal Of Rare Diseases

Di Toro, Alessandro A; Narula, Nupoor N; Giuliani, Lorenzo L; Concardi, Monica M; Smirnova, Alexandra A; Favalli, Valentina V; Urtis, Mario M; Alvisi, Costanza C; Antoniazzi, Elena E; Arbustini, Eloisa E

Publication Date: 2020-06-22

Variant appearance in text: GLA: Asp313Tyr

PubMed Link: 32571412

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1436.pdf

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Rare inherited kidney diseases: an evolving field in Nephrology.

Jornal Brasileiro De Nefrologia : 'Orgao Oficial De Sociedades Brasileira E Latino-Americana De Nefrologia

Cunha, Mariana Faucz Munhoz da MFMD; Sevignani, Gabriela G; Pavanelli, Giovana Memari GM; Carvalho, Mauricio de M; Barreto, Fellype Carvalho FC

Publication Date: 2020-03-20

Variant appearance in text: GLA: D313Y

PubMed Link: 32227072

Variant Present in the following documents:

• Main text
• 2175-8239-jbn-2018-0217.pdf

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Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal

Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R

Publication Date: 2019

Variant appearance in text: GLA: D313Y

PubMed Link: 32042454

Variant Present in the following documents:

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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

Publication Date: 2020-01-31

Variant appearance in text: GLA: 937G>T; D313Y

PubMed Link: 32023956

Variant Present in the following documents:

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Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey.

Anatolian Journal Of Cardiology

Barman, Hasan Ali HA; Özcan, Sevgi S; Atıcı, Adem A; Özgökçe, Caner C; Öztürk, Ahmet A; Kafalı, Ayşegül Ezgi AE; Çakar, Nafiye Emel NE; Tavşanlı, Mustafa Emir ME; Küçük, Mehmet M; Şahin, Irfan I; Okuyan, Ertuğrul E

Publication Date: 2020-01

Variant appearance in text: GLA: 937G>T; Asp313Tyr

PubMed Link: 32011328

Variant Present in the following documents:

• Main text

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