Publications:

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics

Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C

Publication Date: 2022

Variant appearance in text: GLA: H46R

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.pdf

View BVdb publication page

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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: H46R

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GLA: 137A>G; His46Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: H46R

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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Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.

Journal Of Korean Medical Science

Kim, Woo-Shik WS; Kim, Hyun Soo HS; Shin, Jinho J; Park, Jong Chun JC; Yoo, Han-Wook HW; Takenaka, Toshihiro T; Tei, Chuwa C

Publication Date: 2019-02-25

Variant appearance in text: GLA: His46Arg

PubMed Link: 30804731

Variant Present in the following documents:

• Main text
• jkms-34-e63.pdf

View BVdb publication page

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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Journal Of Medical Genetics

Heo, Sun Hee SH; Kang, Eungu E; Kim, Yoon-Myung YM; Go, Heounjeong H; Kim, Kyung Yong KY; Jung, Jae Yong JY; Kang, Minji M; Kim, Gu-Hwan GH; Kim, Jae-Min JM; Choi, In-Hee IH; Choi, Jin-Ho JH; Jung, Sung-Chul SC; Desnick, Robert J RJ; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2017-11

Variant appearance in text: GLA: 137A>G; His46Arg

PubMed Link: 28835480

Variant Present in the following documents:

• Main text
• jmedgenet-2017-104704.pdf

View BVdb publication page

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: H46R

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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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: H46R

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: H46R

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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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: 137A>G; H46R

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page

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A case of fabry cardiomyopathy.

Korean Circulation Journal

Nah, Jong Chun JC; Kim, Woo-Shik WS; Cho, Wook-Hyun WH; Choi, Suk-Koo SK; Yoo, Han-Wook HW; Takenaka, Toshihiro T; Tei, Chuwa C

Publication Date: 2009-08

Variant appearance in text: GLA: H46R

PubMed Link: 19949640

Variant Present in the following documents:

• Main text
• kcj-39-335.pdf

View BVdb publication page

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