Publications:

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Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.

Frontiers In Pediatrics

Gou, Peng P; Leng, Jie J; Cheng, Xinran X; Zhang, Jing J

Publication Date: 2023

Variant appearance in text: GLA: Arg342Gln

PubMed Link: 36873653

Variant Present in the following documents:

• Main text
• fped-11-1057014.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: 1025G>A; R342Q

PubMed Link: 36140787

Variant Present in the following documents:

• 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: 1025G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.

Frontiers In Immunology

Pollmann, Solvey S; Scharnetzki, David D; Manikowski, Dominique D; Lenders, Malte M; Brand, Eva E

Publication Date: 2021

Variant appearance in text: GLA: R342Q

PubMed Link: 34917096

Variant Present in the following documents:

• Main text
• fimmu-12-789142.pdf

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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: R342Q

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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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: Arg342Gln

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

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Expanding Approved Patient Populations for Rare Disease Treatment Using In Vitro Data.

Clinical Pharmacology And Therapeutics

Weaver, James L JL; Wu, Wendy W; Hyland, Paula L PL; Lim, Robert R; Smpokou, Patroula P; Pacanowski, Michael M

Publication Date: 2022-07

Variant appearance in text: GLA: R342Q

PubMed Link: 34496049

Variant Present in the following documents:

• Main text
• CPT-112-58.pdf

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Urinary Extracellular Vesicles and Their miRNA Cargo in Patients with Fabry Nephropathy.

Genes

Levstek, Tina T; Mlinšek, Teo T; Holcar, Marija M; Goričar, Katja K; Lenassi, Metka M; Dolžan, Vita V; Vujkovac, Bojan B; Trebušak Podkrajšek, Katarina K

Publication Date: 2021-07-09

Variant appearance in text: GLA: 1025G>A; Arg342Gln

PubMed Link: 34356073

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: Arg342Gln

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: Arg342Gln

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

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: R342Q

PubMed Link: 33259456

Variant Present in the following documents:

• Main text
• jop-162-1305.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: Arg342Gln

PubMed Link: 33204599

Variant Present in the following documents:

• Main text
• JMD2-56-82.pdf

View BVdb publication page

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Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases

Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-08-26

Variant appearance in text: GLA: 1025G>A; R342Q

PubMed Link: 32843101

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1494.pdf

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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: Arg342Gln

PubMed Link: 32793709

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: GLA: 1025G>A; Arg342Gln

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Recurrent arterial thrombosis in a patient with Fabry disease: case report.

Jornal Vascular Brasileiro

Moraes, Altino Ono AO; Zubiolo, Tiago Francisco Meleiro TFM; Brito, Augusto Felipe Bruchez AFB; Belentani, Jessica J; Santos, Juliano Fabrício JF; Dos Santos, Gisele Nayara GN; Faccin, Lóren Fontinhas LF; Silva, Luanna Gabarrão LG

Publication Date: 2020-03-10

Variant appearance in text: GLA: R342Q

PubMed Link: 32499824

Variant Present in the following documents:

• Main text
• jvb-19-e20190096.pdf

View BVdb publication page

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Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report.

European Heart Journal. Case Reports

Kodama, Kenji K; Ozawa, Tomoya T; Dochi, Kenichi K; Ueno, Yoshiki Y

Publication Date: 2019-12

Variant appearance in text: GLA: R342Q

PubMed Link: 32123796

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1025G>A; R342Q

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: 1025G>A; R342Q; rs28935493

PubMed Link: 31996269

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports

Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2020-03

Variant appearance in text: GLA: R342Q

PubMed Link: 31956509

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.

Clinical And Experimental Nephrology

Narita, Ichiei I; Ohashi, Toya T; Sakai, Norio N; Hamazaki, Takashi T; Skuban, Nina N; Castelli, Jeffrey P JP; Lagast, Hjalmar H; Barth, Jay A JA

Publication Date: 2020-02

Variant appearance in text: GLA: R342Q

PubMed Link: 31889231

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R342Q

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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Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: R342Q

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

View BVdb publication page

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The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Nephron

Moiseev, Sergey S; Fomin, Victor V; Savostyanov, Kirill K; Pushkov, Alexander A; Moiseev, Alexey A; Svistunov, Andrey A; Namazova-Baranova, Leyla L

Publication Date: 2019

Variant appearance in text: GLA: 1025G>A; R342Q

PubMed Link: 30677769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences

Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P

Publication Date: 2018-11-23

Variant appearance in text: GLA: R342Q

PubMed Link: 30477121

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 1025G>A; R342Q

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.

Oncotarget

Colomba, Paolo P; Zizzo, Carmela C; Alessandro, Riccardo R; Cammarata, Giuseppe G; Scalia, Simone S; Giordano, Antonello A; Pieroni, Maurizio M; Sicurella, Luigi L; Amico, Luisa L; Burlina, Alessandro A; Duro, Giovanni G

Publication Date: 2018-01-30

Variant appearance in text: GLA: R342Q

PubMed Link: 29487688

Variant Present in the following documents:

• Main text
• oncotarget-09-7758.pdf

View BVdb publication page

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Fabry heterozygote mimicking multiple sclerosis.

Bmj Case Reports

Yau, Wai Yan WY; Fabis-Pedrini, Marzena J MJ; Kermode, Allan G AG

Publication Date: 2017-06-02

Variant appearance in text: GLA: R342Q

PubMed Link: 28576916

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R342Q

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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: R342Q

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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Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia.

World Journal Of Clinical Cases

Poulin, Marie-France MF; Shah, Alap A; Trohman, Richard G RG; Madias, Christopher C

Publication Date: 2015-06-16

Variant appearance in text: GLA: R342Q

PubMed Link: 26090373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Plos One

Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U

Publication Date: 2015

Variant appearance in text: GLA: 1025G>A; Arg342Gln

PubMed Link: 25955246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Journal Of Medical Genetics

Germain, Dominique P DP; Charrow, Joel J; Desnick, Robert J RJ; Guffon, Nathalie N; Kempf, Judy J; Lachmann, Robin H RH; Lemay, Roberta R; Linthorst, Gabor E GE; Packman, Seymour S; Scott, C Ronald CR; Waldek, Stephen S; Warnock, David G DG; Weinreb, Neal J NJ; Wilcox, William R WR

Publication Date: 2015-05

Variant appearance in text: GLA: Arg342Gln

PubMed Link: 25795794

Variant Present in the following documents:

• jmedgenet-2014-102797-s1.pdf

View BVdb publication page

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Innate and Adaptive Immune Response in Fabry Disease.

Jimd Reports

Mauhin, Wladimir W; Lidove, Olivier O; Masat, Elisa E; Mingozzi, Federico F; Mariampillai, Kuberaka K; Ziza, Jean-Marc JM; Benveniste, Olivier O

Publication Date: 2015

Variant appearance in text: GLA: R342Q

PubMed Link: 25690728

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1025G>A; R342Q

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page

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Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

Journal Of Inherited Metabolic Disease

Hůlková, Helena H; Elleder, Milan M

Publication Date: 2010-12

Variant appearance in text: GLA: Arg342Gln

PubMed Link: 20628902

Variant Present in the following documents:

• Main text
• 10545_2010_Article_9160.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: GLA: R342Q; rs28935493

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 3

View BVdb publication page

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Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Virchows Archiv : An International Journal Of Pathology

Keslová-Veselíková, Jana J; Hůlková, Helena H; Dobrovolný, Robert R; Asfaw, Befekadu B; Poupetová, Helena H; Berná, Linda L; Sikora, Jakub J; Golán, Lubor L; Ledvinová, Jana J; Elleder, Milan M

Publication Date: 2008-06

Variant appearance in text: GLA: R342Q

PubMed Link: 18351385

Variant Present in the following documents:

• Main text
• 428_2008_Article_586.pdf

View BVdb publication page

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