Publications:

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: Y151X

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: 453C>G; Tyr151Ter

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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Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.

Plos One

Fall, Brent B; Scott, C Ronald CR; Mauer, Michael M; Shankland, Stuart S; Pippin, Jeffrey J; Jefferson, Jonathan A JA; Wallace, Eric E; Warnock, David D; Najafian, Behzad B

Publication Date: 2016

Variant appearance in text: GLA: y151x

PubMed Link: 27992580

Variant Present in the following documents:

• Main text
• pone.0168346.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: Y151*

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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