Publications:

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Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.

Iscience

Gambardella, Jessica J; Fiordelisi, Antonella A; Cerasuolo, Federica Andrea FA; Buonaiuto, Antonietta A; Avvisato, Roberta R; Viti, Alessandro A; Sommella, Eduardo E; Merciai, Fabrizio F; Salviati, Emanuela E; Campiglia, Pietro P; D'Argenio, Valeria V; Parisi, Silvia S; Bianco, Antonio A; Spinelli, Letizia L; Di Vaia, Eugenio E; Cuocolo, Alberto A; Pisani, Antonio A; Riccio, Eleonora E; Di Risi, Teodolinda T; Ciccarelli, Michele M; Santulli, Gaetano G; Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2023-03-17

Variant appearance in text: GLA: 680G>A; Arg227Gln

PubMed Link: 36879801

Variant Present in the following documents:

• Main text
• main.pdf

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The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes

Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP

Publication Date: 2022-09-09

Variant appearance in text: GLA: 680G>A

PubMed Link: 36140787

Variant Present in the following documents:

• Main text
• genes-13-01619.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GLA: 680G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.

Kidney Research And Clinical Practice

Kim, Il Young IY; Lee, Hyun Jung HJ; Cheon, Chong Kun CK

Publication Date: 2021-12

Variant appearance in text: GLA: 680G>A

PubMed Link: 34922431

Variant Present in the following documents:

• j-krcp-21-056.pdf

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Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.

Kidney Research And Clinical Practice

Kim, Il Young IY; Lee, Hyun Jung HJ; Cheon, Chong Kun CK

Publication Date: 2021-12

Variant appearance in text: GLA: 680G>A

PubMed Link: 34922431

Variant Present in the following documents:

• j-krcp-21-056.pdf

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Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease.

Intractable & Rare Diseases Research

Hołub, Tomasz T; Kędzierska, Kamila K; Muras-Szwedziak, Katarzyna K; Nowicki, Michał M

Publication Date: 2021-11

Variant appearance in text: GLA: 680G>A; Arg227Gln

PubMed Link: 34877240

Variant Present in the following documents:

• Main text

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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: R227Q

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology

Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S

Publication Date: 2021-06-19

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 34205365

Variant Present in the following documents:

• Main text
• cimb-43-00032.pdf

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Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.

Journal Of Clinical Medicine

Wiest, Maximilian Robert Justus MRJ; Toro, Mario Damiano MD; Nowak, Albina A; Baur, Joel J; Fasler, Katrin K; Hamann, Timothy T; Al-Sheikh, Mayss M; Zweifel, Sandrine Anne SA

Publication Date: 2021-03-05

Variant appearance in text: GLA: 680G>A

PubMed Link: 33807900

Variant Present in the following documents:

• jcm-10-01093.pdf

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Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Dutra-Clarke, Marina M; Tapia, Daisy D; Curtin, Emily E; Rünger, Dennis D; Lee, Grace K GK; Lakatos, Anita A; Alandy-Dy, Zyza Z; Freedkin, Linda L; Hall, Kathy K; Ercelen, Nesrin N; Alandy-Dy, Jousef J; Knight, Margaret M; Pahl, Madeleine M; Lombardo, Dawn D; Kimonis, Virginia V

Publication Date: 2021-03

Variant appearance in text: GLA: 680G>A

PubMed Link: 33437642

Variant Present in the following documents:

• Main text
• main.pdf

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Jimd Reports

Nampoothiri, Sheela S; Yesodharan, Dhanya D; Bhattacherjee, Amrita A; Ahamed, Hisham H; Puri, Ratna Dua RD; Gupta, Neerja N; Kabra, Madhulika M; Ranganath, Prajnya P; Bhat, Meenakshi M; Phadke, Shubha S; Radha Rama Devi, Akella A; Jagadeesh, Sujatha S; Danda, Sumita S; Sylaja, Padmavathy Narayana PN; Mandal, Kausik K; Bijarnia-Mahay, Sunita S; Makkar, Ravinder R; Verma, Ishwar Chander IC; Dalal, Ashwin A; Ramaswami, Uma U

Publication Date: 2020-11

Variant appearance in text: GLA: 680G>A

PubMed Link: 33204599

Variant Present in the following documents:

• JMD2-56-82.pdf

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Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2020-12

Variant appearance in text: GLA: R227Q

PubMed Link: 33072516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2021-10

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 33024316

Variant Present in the following documents:

• 41436_2020_Article_1000.pdf

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2020-06

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 32203225

Variant Present in the following documents:

• Main text
• 41436_2020_Article_772.pdf

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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: 680G>A; R227Q

PubMed Link: 32023956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 680G>A; R227Q; rs104894840

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

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Retinal hyperreflective foci in Fabry disease.

Orphanet Journal Of Rare Diseases

Atiskova, Yevgeniya Y; Rassuli, Rahman R; Koehn, Anja Friederike AF; Golsari, Amir A; Wagenfeld, Lars L; du Moulin, Marcel M; Muschol, Nicole N; Dulz, Simon S

Publication Date: 2019-12-26

Variant appearance in text: GLA: R227Q

PubMed Link: 31878969

Variant Present in the following documents:

• 13023_2019_Article_1267.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: R227Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

Journal Of The American Heart Association

Yogasundaram, Haran H; Nikhanj, Anish A; Putko, Brendan N BN; Boutin, Michel M; Jain-Ghai, Shailly S; Khan, Aneal A; Auray-Blais, Christiane C; West, Michael L ML; Oudit, Gavin Y GY

Publication Date: 2018-11-06

Variant appearance in text: GLA: R227Q

PubMed Link: 30571380

Variant Present in the following documents:

• Main text
• JAH3-7-e009098.pdf

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Immune-Mediated Myocarditis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Frustaci, Andrea A; Verardo, Romina R; Grande, Claudia C; Galea, Nicola N; Piselli, Pierluca P; Carbone, Iacopo I; Alfarano, Maria M; Russo, Matteo Antonio MA; Chimenti, Cristina C

Publication Date: 2018-09-04

Variant appearance in text: GLA: R227Q

PubMed Link: 30371172

Variant Present in the following documents:

• Main text

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Fabry Disease Diagnosis in a Young Stroke Patient: A Case Report.

Noro Psikiyatri Arsivi

Gündoğdu, Aslı Aksoy AA; Kotan, Dilcan D; Alemdar, Murat M; Ayas, Zeynep Özözen ZÖ

Publication Date: 2018-09

Variant appearance in text: GLA: R227Q

PubMed Link: 30224878

Variant Present in the following documents:

• Main text

View BVdb publication page

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Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy.

Frontiers In Cardiovascular Medicine

Loso, Jefferson J; Lund, Natalie N; Avanesov, Maxim M; Muschol, Nicole N; Lezius, Susanne S; Cordts, Kathrin K; Schwedhelm, Edzard E; Patten, Monica M

Publication Date: 2018

Variant appearance in text: GLA: R227Q

PubMed Link: 30159316

Variant Present in the following documents:

• Main text
• fcvm-05-00108.pdf

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Major Organic Involvement in Women with Fabry Disease in Argentina.

Thescientificworldjournal

Perretta, Fernando F; Antongiovanni, Norberto N; Jaurretche, Sebastián S

Publication Date: 2018

Variant appearance in text: GLA: 680G>A

PubMed Link: 29950951

Variant Present in the following documents:

• Main text
• TSWJ2018-6515613.pdf

View BVdb publication page

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Fabry disease in the Spanish population: observational study with detection of 77 patients.

Orphanet Journal Of Rare Diseases

Vieitez, Irene I; Souto-Rodriguez, Olga O; Fernandez-Mosquera, Lorena L; San Millan, Beatriz B; Teijeira, Susana S; Fernandez-Martin, Julian J; Martinez-Sanchez, Felisa F; Aldamiz-Echevarria, Luis Jose LJ; Lopez-Rodriguez, Monica M; Navarro, Carmen C; Ortolano, Saida S

Publication Date: 2018-04-10

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 29631605

Variant Present in the following documents:

• Main text
• 13023_2018_Article_792.pdf

View BVdb publication page

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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

Plos One

Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V

Publication Date: 2017

Variant appearance in text: GLA: R227Q

PubMed Link: 28672034

Variant Present in the following documents:

• Main text
• pone.0180581.pdf

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: R227Q

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

View BVdb publication page

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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

Publication Date: 2015-12-12

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 26652600

Variant Present in the following documents:

• Main text
• 12883_2015_Article_513.pdf

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Jimd Reports

Goker-Alpan, Ozlem O; Gambello, Michael J MJ; Maegawa, Gustavo H B GH; Nedd, Khan J KJ; Gruskin, Daniel J DJ; Blankstein, Larry L; Weinreb, Neal J NJ

Publication Date: 2016

Variant appearance in text: GLA: R227Q

PubMed Link: 26303609

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: R227Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Plos One

Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2015

Variant appearance in text: GLA: R227Q

PubMed Link: 26083343

Variant Present in the following documents:

• Main text
• pone.0128351.pdf

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: R227Q

PubMed Link: 23935525

Variant Present in the following documents:

• Main text

View BVdb publication page

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Urine bikunin as a marker of renal impairment in Fabry's disease.

Biomed Research International

Lepedda, Antonio Junior AJ; Fancellu, Laura L; Zinellu, Elisabetta E; De Muro, Pierina P; Nieddu, Gabriele G; Deiana, Giovanni Andrea GA; Canu, Piera P; Concolino, Daniela D; Sestito, Simona S; Formato, Marilena M; Sechi, Gianpietro G

Publication Date: 2013

Variant appearance in text: GLA: Arg227Gln

PubMed Link: 23841057

Variant Present in the following documents:

• Main text
• BMRI2013-205948.pdf

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Assay And Drug Development Technologies

Valenzano, Kenneth J KJ; Khanna, Richie R; Powe, Allan C AC; Boyd, Robert R; Lee, Gary G; Flanagan, John J JJ; Benjamin, Elfrida R ER

Publication Date: 2011-06

Variant appearance in text: GLA: R227Q

PubMed Link: 21612550

Variant Present in the following documents:

• Main text

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 680G>A; R227Q

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page

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