Publications:

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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: W349X

PubMed Link: 34917096

Variant Present in the following documents:

• Main text
• fimmu-12-789142.pdf

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: 1046G>A; W349*

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

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: W349X

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

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: W349X

PubMed Link: 30571380

Variant Present in the following documents:

• Main text
• JAH3-7-e009098.pdf

View BVdb publication page

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Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene.

Plos One

Lenders, Malte M; Duning, Thomas T; Schelleckes, Michael M; Schmitz, Boris B; Stander, Sonja S; Rolfs, Arndt A; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2013

Variant appearance in text: GLA: W349X

PubMed Link: 23393592

Variant Present in the following documents:

• Main text
• pone.0055565.pdf

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Early diagnosis of fabry disease in a patient with toe tip pain.

The Korean Journal Of Pain

Park, Ki Bum KB; Han, Kyung Ream KR; Lee, Jae Woo JW; Kim, Seung Ho SH; Kim, Do Wan DW; Kim, Chan C; Ko, Jung Min JM

Publication Date: 2010-09

Variant appearance in text: GLA: W349X

PubMed Link: 20830268

Variant Present in the following documents:

• Main text
• kjpain-23-207.pdf

View BVdb publication page

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