Publications:

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes

Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP

Publication Date: 2022-09-09

Variant appearance in text: GLA: D170H

PubMed Link: 36140787

Variant Present in the following documents:

• Main text
• genes-13-01619.pdf

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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Clinical Genetics

Germain, Dominique P DP; Levade, Thierry T; Hachulla, Eric E; Knebelmann, Bertrand B; Lacombe, Didier D; Seguin, Vanessa Leguy VL; Nguyen, Karine K; Noël, Esther E; Rabès, Jean-Pierre JP

Publication Date: 2022-04

Variant appearance in text: GLA: 508G>C; Asp170His

PubMed Link: 34927718

Variant Present in the following documents:

• Main text
• CGE-101-390.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: 508G>C; D170H

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: D170H

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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