Publications:

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: P214L

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: 641C>T; P214L

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: P214L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Plos One

Ravarotto, Verdiana V; Carraro, Gianni G; Pagnin, Elisa E; Bertoldi, Giovanni G; Simioni, Francesca F; Maiolino, Giuseppe G; Martinato, Matteo M; Landini, Linda L; Davis, Paul A PA; Calò, Lorenzo A LA

Publication Date: 2018

Variant appearance in text: GLA: 641C>T

PubMed Link: 30261035

Variant Present in the following documents:

• Main text
• pone.0204618.pdf

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