Publications:

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: 284G>T; W95L

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: W95L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.

Plos One

Ivanova, Margarita M MM; Changsila, Erk E; Iaonou, Chidima C; Goker-Alpan, Ozlem O

Publication Date: 2019

Variant appearance in text: GLA: W95L

PubMed Link: 30633777

Variant Present in the following documents:

• Main text
• pone.0210617.pdf

View BVdb publication page