Publications:

---

Polycystic kidney disease complicates renal pathology in a family with Fabry disease.

Molecular Genetics And Metabolism Reports

Johar, Leepakshi L; Lee, Grace G; Martin-Rios, Angela A; Hall, Kathy K; Cheng, Cheng C; Lombardo, Dawn D; Pahl, Madeleine M; Kimonis, Virginia V

Publication Date: 2022-12

Variant appearance in text: GLA: Asp244Asn

PubMed Link: 36406818

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: 730G>A; Asp244Asn

PubMed Link: 35743707

Variant Present in the following documents:

• jpm-12-00922.pdf

View BVdb publication page

---

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: D244N

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

---

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Dutra-Clarke, Marina M; Tapia, Daisy D; Curtin, Emily E; Rünger, Dennis D; Lee, Grace K GK; Lakatos, Anita A; Alandy-Dy, Zyza Z; Freedkin, Linda L; Hall, Kathy K; Ercelen, Nesrin N; Alandy-Dy, Jousef J; Knight, Margaret M; Pahl, Madeleine M; Lombardo, Dawn D; Kimonis, Virginia V

Publication Date: 2021-03

Variant appearance in text: GLA: 730G>A

PubMed Link: 33437642

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 730G>A; Asp244Asn

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D244N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: D244N

PubMed Link: 30972193

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 730G>A; Asp244Asn

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GLA: D244N

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: D244N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: D244N

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page

---

Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Molecular Medicine (Cambridge, Mass.)

Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Desnick, Robert J RJ; Hwu, Wuh-Liang WL

Publication Date: 2012-07-18

Variant appearance in text: GLA: D244N

PubMed Link: 22437327

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 730G>A; D244N

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page

---