Publications:

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The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.

International Journal Of Molecular Sciences

Limgala, Renuka P RP; Fikry, Jaqueline J; Veligatla, Vasudha V; Goker-Alpan, Ozlem O

Publication Date: 2020-09-29

Variant appearance in text: GLA: R49P

PubMed Link: 33003611

Variant Present in the following documents:

• Main text
• ijms-21-07213.pdf

View BVdb publication page

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Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases

Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-08-26

Variant appearance in text: GLA: 146G>C

PubMed Link: 32843101

Variant Present in the following documents:

• 13023_2020_Article_1494.pdf

View BVdb publication page

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 146G>C; R49P; rs398123205

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

View BVdb publication page

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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: R49P

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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Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.

American Journal Of Translational Research

Limgala, Renuka P RP; Jennelle, Tabitha T; Plassmeyer, Matthew M; Boutin, Michel M; Lavoie, Pamela P; Abaoui, Mona M; Auray-Blais, Christiane C; Nedd, Khan K; Alpan, Oral O; Goker-Alpan, Ozlem O

Publication Date: 2019

Variant appearance in text: GLA: R49P

PubMed Link: 30972193

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R49P

PubMed Link: 30633777

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: R49P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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: R49P

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page

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