Publications:

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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: 827G>A; S276N

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

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Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.

Journal Of Clinical Medicine

Wiest, Maximilian Robert Justus MRJ; Toro, Mario Damiano MD; Nowak, Albina A; Baur, Joel J; Fasler, Katrin K; Hamann, Timothy T; Al-Sheikh, Mayss M; Zweifel, Sandrine Anne SA

Publication Date: 2021-03-05

Variant appearance in text: GLA: 827G>A

PubMed Link: 33807900

Variant Present in the following documents:

• jcm-10-01093.pdf

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Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Journal Of Medical Genetics

Nowak, Albina A; Beuschlein, Felix F; Sivasubramaniam, Visnuka V; Kasper, David D; Warnock, David G DG

Publication Date: 2022-03

Variant appearance in text: GLA: 827G>A; S276N

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.pdf

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: S276N

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: S276N

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: S276N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Bmj Open Respiratory Research

Franzen, Daniel D; Haile, Sarah R SR; Kasper, David C DC; Mechtler, Thomas P TP; Flammer, Andreas J AJ; Krayenbühl, Pierre A PA; Nowak, Albina A

Publication Date: 2018

Variant appearance in text: GLA: 827G>A; S276N

PubMed Link: 29713479

Variant Present in the following documents:

• bmjresp-2018-000277supp001.pdf

View BVdb publication page

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