Publications:

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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Journal Of Personalized Medicine

Jurickova, Katarina K; Jungova, Petra P; Petrovic, Robert R; Mattosova, Slavomira S; Hlavata, Tereza T; Kostalova, Ludmila L; Hlavata, Anna A

Publication Date: 2022-06-01

Variant appearance in text: GLA: E66G

PubMed Link: 35743707

Variant Present in the following documents:

• Main text
• jpm-12-00922.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: Glu66Gly

PubMed Link: 34927718

Variant Present in the following documents:

• Main text
• CGE-101-390.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: E66G

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening

Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D

Publication Date: 2020-06

Variant appearance in text: GLA: 197A>G; E66G

PubMed Link: 32802993

Variant Present in the following documents:

• Main text
• IJNS-06-00044.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: E66G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clinical Genetics

Germain, Dominique P DP; Fouilhoux, Alain A; Decramer, Stéphane S; Tardieu, Marine M; Pillet, Pascal P; Fila, Marc M; Rivera, Serge S; Deschênes, Georges G; Lacombe, Didier D

Publication Date: 2019-08

Variant appearance in text: GLA: E66G

PubMed Link: 30941742

Variant Present in the following documents:

• Main text
• CGE-96-107.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: E66G

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Ishii, Satoshi S

Publication Date: 2012

Variant appearance in text: GLA: E66G

PubMed Link: 22241068

Variant Present in the following documents:

• pjab-88-018.pdf

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