Publications:

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 511G>A; G171S

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: GLA: 511G>A

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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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: G171S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: 511G>A; G171S

PubMed Link: 28988177

Variant Present in the following documents:

• Main text
• bmjopen-2017-017098.pdf
• bmjopen-2017-017098.draft_revisions.pdf

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