Publications:

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Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation.

Case (Philadelphia, Pa.)

Zhou, Guang-Wei GW; Yang, Fan F; Qiao, Fan F; Song, Zhi-Gang ZG; Han, Lin L; Lu, Fang-Lin FL; Xu, Zhi-Yun ZY

Publication Date: 2023-01

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 36704486

Variant Present in the following documents:

• Main text
• main.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: 679C>T; Arg227*

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: 679C>T; Arg227Ter

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

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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: 679C>T

PubMed Link: 36140787

Variant Present in the following documents:

• Main text
• genes-13-01619.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: GLA: 679C>T; Arg227*

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Unexplained Left Ventricular Hypertrophy with Symptomatic High-Grade Atrioventricular Block in Elderly Patients: A Case Report.

Journal Of Clinical Medicine

Yu, Tzu-Ping TP; Chen, Ju-Yi JY

Publication Date: 2022-06-19

Variant appearance in text: GLA: R227X

PubMed Link: 35743592

Variant Present in the following documents:

• jcm-11-03522.pdf

View BVdb publication page

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Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation.

Molecular Genetics & Genomic Medicine

Pietilä-Effati, Päivi P; Söderström, Johan J; Saarinen, Jukka T JT; Löyttyniemi, Eliisa E; Kantola, Ilkka I

Publication Date: 2022-05

Variant appearance in text: GLA: 679C>T; R227*

PubMed Link: 35246967

Variant Present in the following documents:

• Main text
• MGG3-10-e1915.pdf

View BVdb publication page

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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: 679C>T

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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Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases

Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H

Publication Date: 2021-12-14

Variant appearance in text: GLA: 679C>T; Arg227X

PubMed Link: 34906154

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2136.pdf

View BVdb publication page

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Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases

Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H

Publication Date: 2021-12-14

Variant appearance in text: GLA: 679C>T; Arg227X

PubMed Link: 34906154

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2136.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: R227*

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: Arg227X

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

View BVdb publication page

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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: 679C>T; Arg227Ter

PubMed Link: 34356073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.

Clinics (Sao Paulo, Brazil)

Rosa Neto, Nilton Salles NS; Bento, Judith Campos de Barros JCB; Caparbo, Valéria de Falco VF; Pereira, Rosa Maria Rodrigues RMR

Publication Date: 2021

Variant appearance in text: GLA: R227X

PubMed Link: 34287477

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: Arg227X

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: Arg227X

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease.

Orphanet Journal Of Rare Diseases

Chimenti, Cristina C; Verardo, Romina R; Frustaci, Andrea A

Publication Date: 2021-04-10

Variant appearance in text: GLA: 679C>T

PubMed Link: 33838691

Variant Present in the following documents:

• 13023_2021_Article_1803.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: GLA: 679C>T; Arg227*

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Journal Of Medical Genetics

Nowak, Albina A; Beuschlein, Felix F; Sivasubramaniam, Visnuka V; Kasper, David D; Warnock, David G DG

Publication Date: 2022-03

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.pdf

View BVdb publication page

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Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

International Journal Of Molecular Sciences

Lombardi, Silvia S; Testa, Maria Francesca MF; Pinotti, Mirko M; Branchini, Alessio A

Publication Date: 2020-12-11

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 33322589

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: R227X

PubMed Link: 33259456

Variant Present in the following documents:

• Main text
• jop-162-1305.pdf

View BVdb publication page

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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: 679C>T

PubMed Link: 33204599

Variant Present in the following documents:

• JMD2-56-82.pdf

View BVdb publication page

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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: R227X

PubMed Link: 33072516

Variant Present in the following documents:

• Main text
• main.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: 679C>T; R227*

PubMed Link: 32843101

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1494.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: GLA: R227*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 679C>T; Arg227Ter

PubMed Link: 32127409

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: 679C>T; R227*; rs104894841

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: R227*

PubMed Link: 31956509

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.

Molecular Genetics And Metabolism Reports

Rosa Neto, Nilton Salles NS; Bento, Judith Campos de Barros JCB; Pereira, Rosa Maria Rodrigues RMR

Publication Date: 2020-03

Variant appearance in text: GLA: R227X

PubMed Link: 31871893

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Rna Biology

Lombardi, Silvia S; Ferrarese, Mattia M; Marchi, Saverio S; Pinton, Paolo P; Pinotti, Mirko M; Bernardi, Francesco F; Branchini, Alessio A

Publication Date: 2020-02

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 31613176

Variant Present in the following documents:

• Main text

View BVdb publication page

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Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.

Molecular Genetics & Genomic Medicine

Pietilä-Effati, Päivi P; Saarinen, Jukka T JT; Löyttyniemi, Eliisa E; Autio, Reijo R; Saarenhovi, Maria M; Haanpää, Maria K MK; Kantola, Ilkka I

Publication Date: 2019-10

Variant appearance in text: GLA: 679C>T; Arg227Ter

PubMed Link: 31411008

Variant Present in the following documents:

• Main text
• MGG3-7-e00930.pdf

View BVdb publication page

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Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Molecular Genetics And Metabolism Reports

Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y

Publication Date: 2019-09

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 31372342

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GLA: R227*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52

View BVdb publication page

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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

Publication Date: 2019-04-17

Variant appearance in text: GLA: Arg227x

PubMed Link: 30996283

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42727.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: 679C>T; R227X

PubMed Link: 30677769

Variant Present in the following documents:

• Main text

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: R227X

PubMed Link: 30571380

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: R227X

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: 679C>T; R227X

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Urine-derived cells: a promising diagnostic tool in Fabry disease patients.

Scientific Reports

Slaats, Gisela G GG; Braun, Fabian F; Hoehne, Martin M; Frech, Laura E LE; Blomberg, Linda L; Benzing, Thomas T; Schermer, Bernhard B; Rinschen, Markus M MM; Kurschat, Christine E CE

Publication Date: 2018-07-23

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 30038331

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29240.pdf
• 41598_2018_29240_MOESM1_ESM.pdf

View BVdb publication page

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Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Human Molecular Genetics

Welford, R W D RWD; Mühlemann, A A; Garzotti, M M; Rickert, V V; Groenen, P M A PMA; Morand, O O; Üçeyler, N N; Probst, M R MR

Publication Date: 2018-10-01

Variant appearance in text: GLA: 679C>T; R227X

PubMed Link: 29982630

Variant Present in the following documents:

• Main text
• ddy248.pdf

View BVdb publication page

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Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

F1000Research

McCloskey, Sarah S; Brennan, Paul P; Sayer, John A JA

Publication Date: 2018

Variant appearance in text: GLA: 679C>T; Arg227*; rs104894841

PubMed Link: 29770213

Variant Present in the following documents:

• Main text
• f1000research-7-14890.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: Arg227*

PubMed Link: 29631605

Variant Present in the following documents:

• Main text
• 13023_2018_Article_792.pdf

View BVdb publication page

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Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Aguiar, Patrício P; Azevedo, Olga O; Pinto, Rui R; Marino, Jacira J; Cardoso, Carlos C; Sousa, Nuno N; Cunha, Damião D; Hughes, Derralynn D; Ducla Soares, José Luís JL

Publication Date: 2018-03-13

Variant appearance in text: GLA: R227X

PubMed Link: 29535138

Variant Present in the following documents:

• JAH3-7-e007124.pdf

View BVdb publication page

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Parkinson's disease prevalence in Fabry disease: A survey study.

Molecular Genetics And Metabolism Reports

Wise, Adina H AH; Yang, Amy A; Naik, Hetanshi H; Stauffer, Chanan C; Zeid, Natasha N; Liong, Christopher C; Balwani, Manisha M; Desnick, Robert J RJ; Alcalay, Roy N RN

Publication Date: 2018-03

Variant appearance in text: GLA: R227X

PubMed Link: 29159076

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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Skrunes, Rannveig R; Tøndel, Camilla C; Leh, Sabine S; Larsen, Kristin Kampevold KK; Houge, Gunnar G; Davidsen, Einar Skulstad ES; Hollak, Carla C; van Kuilenburg, André B P ABP; Vaz, Frédéric M FM; Svarstad, Einar E

Publication Date: 2017-09-07

Variant appearance in text: GLA: 679C>T

PubMed Link: 28625968

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