Publications:

X-chromosomal inactivation patterns in women with Fabry disease.

Molecular Genetics & Genomic Medicine

Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N

Publication Date: 2022-09

Variant appearance in text: GLA: 648T>A; Y216*

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

View BVdb publication page

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: Y216X

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

View BVdb publication page

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: 648T>A; Y216*

PubMed Link: 27356758

Variant Present in the following documents:

View BVdb publication page