Publications:

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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: 785G>A; Trp262*

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

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Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype.

Molecular Genetics And Metabolism Reports

Elsaid, Hassan O A HOA; Furriol, Jessica J; Blomqvist, Maria M; Diswall, Mette M; Leh, Sabine S; Gharbi, Naouel N; Anonsen, Jan Haug JH; Babickova, Janka J; Tøndel, Camilla C; Svarstad, Einar E; Marti, Hans-Peter HP; Krause, Maximilian M

Publication Date: 2022-06

Variant appearance in text: GLA: Trp262*; rs869312402

PubMed Link: 35242583

Variant Present in the following documents:

• Main text
• main.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: W262*

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: Trp262X

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

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: W262X

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: Trp262X

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: Trp262X

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.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: W262X

PubMed Link: 31871893

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

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

Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID

Publication Date: 2018-12

Variant appearance in text: GLA: 785G>A

PubMed Link: 29907799

Variant Present in the following documents:

• 41436_2018_4_MOESM3_ESM.xlsx, sheet 1

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: W262*

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

View BVdb publication page

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Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation.

Arquivos Brasileiros De Cardiologia

Baptista, Ana A; Magalhães, Pedro P; Leão, Sílvia S; Carvalho, Sofia S; Mateus, Pedro P; Moreira, Ilídio I

Publication Date: 2015-08

Variant appearance in text: GLA: 785G>A; W262X

PubMed Link: 26269958

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: N/A

PubMed Link: 25795794

Variant Present in the following documents:

View BVdb publication page

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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: W262*

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

View BVdb publication page

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