Publications:

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Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease.

Frontiers In Immunology

Lenders, Malte M; Brand, Eva E

Publication Date: 2022

Variant appearance in text: GLA: C94S

PubMed Link: 36569886

Variant Present in the following documents:

• Main text
• fimmu-13-1024963.pdf

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Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease.

Brain Sciences

Castro, Pedro P; Gutierres, Mariana M; Pereira, Gilberto G; Ferreira, Susana S; Oliveira, João Paulo JP; Azevedo, Elsa E

Publication Date: 2020-08-07

Variant appearance in text: GLA: Cys94Ser

PubMed Link: 32784589

Variant Present in the following documents:

• Main text
• brainsci-10-00528.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: C94S

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: C94S

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

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Fabry disease due to D313Y and novel GLA mutations.

Bmj Open

Koulousios, Konstantinos K; Stylianou, Konstantinos K; Pateinakis, Panagiotis P; Zamanakou, Maria M; Loules, Gedeon G; Manou, Eleni E; Kyriklidou, Parthena P; Katsinas, Christos C; Ouzouni, Alexandra A; Kyriazis, John J; Speletas, Matthaios M; Germenis, Anastasios E AE

Publication Date: 2017-10-06

Variant appearance in text: GLA: 280T>A; Cys94Ser

PubMed Link: 28988177

Variant Present in the following documents:

• Main text
• bmjopen-2017-017098.pdf
• bmjopen-2017-017098.reviewer_comments.pdf
• bmjopen-2017-017098.draft_revisions.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: C94S

PubMed Link: 27356758

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2016-05-04

Variant appearance in text: GLA: C94S

PubMed Link: 27142856

Variant Present in the following documents:

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: C94S

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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Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.

Journal Of The American Society Of Nephrology : Jasn

Lenders, Malte M; Stypmann, Jörg J; Duning, Thomas T; Schmitz, Boris B; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2016-01

Variant appearance in text: GLA: C94S

PubMed Link: 25933799

Variant Present in the following documents:

• Main text

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: C94S

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Plos One

Young-Gqamana, Brandy B; Brignol, Nastry N; Chang, Hui-Hwa HH; Khanna, Richie R; Soska, Rebecca R; Fuller, Maria M; Sitaraman, Sheela A SA; Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2013

Variant appearance in text: N/A

PubMed Link: 23472096

Variant Present in the following documents:

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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Barisoni, Laura L; Jennette, Charles J CJ; Bragat, Alexander A; Castelli, Jeff J; Sitaraman, Sheela S; Lockhart, David J DJ; Boudes, Pol F PF

Publication Date: 2012-11-24

Variant appearance in text: N/A

PubMed Link: 23176611

Variant Present in the following documents:

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