Publications:

---

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Life (Basel, Switzerland)

Gatterer, Constantin C; Beitzke, Dietrich D; Graf, Senta S; Lenz, Max M; Sunder-Plassmann, Gere G; Mann, Christopher C; Ponleitner, Markus M; Manka, Robert R; Fritschi, Daniel D; Krayenbuehl, Pierre-Alexandre PA; Kamm, Philipp P; Dormond, Olivier O; Barbey, Frédéric F; Monney, Pierre P; Nowak, Albina A

Publication Date: 2023-05-19

Variant appearance in text: GLA: 902G>A; R301Q

PubMed Link: 37240859

Variant Present in the following documents:

• Main text
• life-13-01213.pdf

View BVdb publication page

---

Synuclein α accumulation mediates podocyte injury in Fabry nephropathy.

The Journal Of Clinical Investigation

Braun, Fabian F; Abed, Ahmed A; Sellung, Dominik D; Rogg, Manuel M; Woidy, Mathias M; Eikrem, Oysten O; Wanner, Nicola N; Gambardella, Jessica J; Laufer, Sandra D SD; Haas, Fabian F; Wong, Milagros N MN; Dumoulin, Bernhard B; Rischke, Paula P; Mühlig, Anne K AK; Sachs, Wiebke W; von Cossel, Katharina K; Schulz, Kristina K; Muschol, Nicole N; Gersting, Sören W SW; Muntau, Ania C AC; Kretz, Oliver O; Hahn, Oliver O; Rinschen, Markus M MM; Mauer, Michael M; Bork, Tillmann T; Grahammer, Florian F; Liang, Wei W; Eierhoff, Thorsten T; Römer, Winfried W; Hansen, Arne A; Meyer-Schwesinger, Catherine C; Iaccarino, Guido G; Tøndel, Camilla C; Marti, Hans-Peter HP; Najafian, Behzad B; Puelles, Victor G VG; Schell, Christoph C; Huber, Tobias B TB

Publication Date: 2023-04-04

Variant appearance in text: GLA: R301Q

PubMed Link: 37014703

Variant Present in the following documents:

• jci-133-157782.pdf

View BVdb publication page

---

Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.

Iscience

Gambardella, Jessica J; Fiordelisi, Antonella A; Cerasuolo, Federica Andrea FA; Buonaiuto, Antonietta A; Avvisato, Roberta R; Viti, Alessandro A; Sommella, Eduardo E; Merciai, Fabrizio F; Salviati, Emanuela E; Campiglia, Pietro P; D'Argenio, Valeria V; Parisi, Silvia S; Bianco, Antonio A; Spinelli, Letizia L; Di Vaia, Eugenio E; Cuocolo, Alberto A; Pisani, Antonio A; Riccio, Eleonora E; Di Risi, Teodolinda T; Ciccarelli, Michele M; Santulli, Gaetano G; Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2023-03-17

Variant appearance in text: GLA: R301Q

PubMed Link: 36879801

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

Orphanet Journal Of Rare Diseases

Sánchez, Rosario R; Ripoll-Vera, Tomás T; López-Mendoza, Manuel M; de Juan-Ribera, Joaquín J; Gimeno, Juan Ramón JR; Hermida, Álvaro Á; Ruz-Zafra, María Aurora MA; Torregrosa, José Vicente JV; Mora, Antonia A; García-Pinilla, José Manuel JM; Fortuny, Elena E; Aguinaga-Barrilero, Ana A; Torra, Roser R

Publication Date: 2023-01-09

Variant appearance in text: GLA: 902G>A; Arg301Gln

PubMed Link: 36624527

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2599.pdf

View BVdb publication page

---

Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease.

Frontiers In Immunology

Lenders, Malte M; Brand, Eva E

Publication Date: 2022

Variant appearance in text: GLA: R301Q

PubMed Link: 36569886

Variant Present in the following documents:

• Main text
• fimmu-13-1024963.pdf

View BVdb publication page

---

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 902G>A; Arg301Gln

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

---

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.

Molecular Genetics And Metabolism Reports

Consolato, Francesco F; De Fusco, Maurizio M; Schaeffer, Céline C; Pieruzzi, Federico F; Scolari, Francesco F; Gallieni, Maurizio M; Lanzani, Chiara C; Feriozzi, Sandro S; Rampoldi, Luca L

Publication Date: 2022-12

Variant appearance in text: GLA: R301Q

PubMed Link: 36345359

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

X-chromosomal inactivation patterns in women with Fabry disease.

Molecular Genetics & Genomic Medicine

Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N

Publication Date: 2022-09

Variant appearance in text: GLA: R301Q

PubMed Link: 35971858

Variant Present in the following documents:

• Main text
• MGG3-10-e2029.pdf

View BVdb publication page

---

Unexplained Left Ventricular Hypertrophy with Symptomatic High-Grade Atrioventricular Block in Elderly Patients: A Case Report.

Journal Of Clinical Medicine

Yu, Tzu-Ping TP; Chen, Ju-Yi JY

Publication Date: 2022-06-19

Variant appearance in text: GLA: R301Q

PubMed Link: 35743592

Variant Present in the following documents:

• jcm-11-03522.pdf

View BVdb publication page

---

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: R301Q

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.pdf

View BVdb publication page

---

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.

Journal Of Clinical Medicine

Mauhin, Wladimir W; Tebani, Abdellah A; Amelin, Damien D; Abily-Donval, Lenaig L; Lamari, Foudil F; London, Jonathan J; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; Noel, Esther E; Masseau, Agathe A; Lacombe, Didier D; Maillard, Hélène H; Bekri, Soumeya S; Lidove, Olivier O; Benveniste, Olivier O

Publication Date: 2022-02-24

Variant appearance in text: GLA: Arg301Gln

PubMed Link: 35268324

Variant Present in the following documents:

• Main text
• jcm-11-01233.pdf

View BVdb publication page

---

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GLA: 902G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules

Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-12-10

Variant appearance in text: GLA: Arg301Gln

PubMed Link: 34944500

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Biomolecules

Besada, Pedro P; Gallardo-Gómez, María M; Pérez-Márquez, Tania T; Patiño-Álvarez, Lucía L; Pantano, Sergio S; Silva-López, Carlos C; Terán, Carmen C; Arévalo-Gómez, Ana A; Ruz-Zafra, Aurora A; Fernández-Martín, Julián J; Ortolano, Saida S

Publication Date: 2021-12-10

Variant appearance in text: GLA: Arg301Gln

PubMed Link: 34944500

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.

Frontiers In Immunology

Pollmann, Solvey S; Scharnetzki, David D; Manikowski, Dominique D; Lenders, Malte M; Brand, Eva E

Publication Date: 2021

Variant appearance in text: GLA: R301Q

PubMed Link: 34917096

Variant Present in the following documents:

• Main text
• fimmu-12-789142.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: R301Q

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

---

Ion channels and pain in Fabry disease.

Molecular Pain

Weissmann, Carina C; Albanese, Adriana A AA; Contreras, Natalia E NE; Gobetto, María N MN; Castellanos, Libia C Salinas LCS; Uchitel, Osvaldo D OD

Publication Date: 2021

Variant appearance in text: GLA: R301Q

PubMed Link: 34284652

Variant Present in the following documents:

• Main text
• 10.1177_17448069211033172.pdf

View BVdb publication page

---

Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.

International Journal Of Molecular Sciences

Modrego, Andrea A; Amaranto, Marilla M; Godino, Agustina A; Mendoza, Rosa R; Barra, José Luis JL; Corchero, José Luis JL

Publication Date: 2021-06-17

Variant appearance in text: GLA: R301Q

PubMed Link: 34204583

Variant Present in the following documents:

• Main text
• ijms-22-06518.pdf

View BVdb publication page

---

A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: GLA: R301Q

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

---

Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

Frontiers In Genetics

Cainelli, Francesca F; Argandykov, Dias D; Kaldarbekov, Dauren D; Mukarov, Murat M; Tran Thi Phuong, Liên L; Germain, Dominique P DP

Publication Date: 2021

Variant appearance in text: GLA: Arg301Gln

PubMed Link: 33986771

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fabry Disease and the Heart: A Comprehensive Review.

International Journal Of Molecular Sciences

Azevedo, Olga O; Cordeiro, Filipa F; Gago, Miguel Fernandes MF; Miltenberger-Miltenyi, Gabriel G; Ferreira, Catarina C; Sousa, Nuno N; Cunha, Damião D

Publication Date: 2021-04-23

Variant appearance in text: GLA: R301Q

PubMed Link: 33922740

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Molecular Genetics & Genomic Medicine

Germain, Dominique P DP; Moiseev, Sergey S; Suárez-Obando, Fernando F; Al Ismaili, Faisal F; Al Khawaja, Huda H; Altarescu, Gheona G; Barreto, Fellype C FC; Haddoum, Farid F; Hadipour, Fatemeh F; Maksimova, Irina I; Kramis, Mirelle M; Nampoothiri, Sheela S; Nguyen, Khanh Ngoc KN; Niu, Dau-Ming DM; Politei, Juan J; Ro, Long-Sun LS; Vu Chi, Dung D; Chen, Nan N; Kutsev, Sergey S

Publication Date: 2021-05

Variant appearance in text: GLA: R301Q

PubMed Link: 33835733

Variant Present in the following documents:

• Main text
• MGG3-9-e1666.pdf

View BVdb publication page

---

Progression of electrocardiogram changes in an untreated fabry disease: a case report.

European Heart Journal. Case Reports

Mattig, Isabel I; Canaan-Kühl, Sima S; Tillmanns, Christoph C; Knebel, Fabian F

Publication Date: 2021-02

Variant appearance in text: GLA: 902G>A; Arg301Gln

PubMed Link: 33738419

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fabry Disease: The Current Treatment Landscape.

Drugs

Lenders, Malte M; Brand, Eva E

Publication Date: 2021-04

Variant appearance in text: GLA: R301Q

PubMed Link: 33721270

Variant Present in the following documents:

• Main text
• 40265_2021_Article_1486.pdf

View BVdb publication page

---

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: GLA: 902G>A; Arg301Gln

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.

International Journal Of Molecular Sciences

Sorriento, Daniela D; Iaccarino, Guido G

Publication Date: 2021-01-29

Variant appearance in text: GLA: R301Q

PubMed Link: 33572752

Variant Present in the following documents:

• Main text
• ijms-22-01331.pdf

View BVdb publication page

---

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.

Journal Of Medical Genetics

Nowak, Albina A; Beuschlein, Felix F; Sivasubramaniam, Visnuka V; Kasper, David D; Warnock, David G DG

Publication Date: 2022-03

Variant appearance in text: GLA: 902G>A; R301Q

PubMed Link: 33495303

Variant Present in the following documents:

• jmedgenet-2020-107338supp001.pdf

View BVdb publication page

---

Fabry disease pain: patient and preclinical parallels.

Pain

Burand, Anthony J AJ; Stucky, Cheryl L CL

Publication Date: 2021-05-01

Variant appearance in text: GLA: R301Q

PubMed Link: 33259456

Variant Present in the following documents:

• Main text
• jop-162-1305.pdf

View BVdb publication page

---

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.

Molecular Genetics And Metabolism Reports

Hopkin, Robert J RJ; Feldt-Rasmussen, Ulla U; Germain, Dominique P DP; Jovanovic, Ana A; Martins, Ana Maria AM; Nicholls, Kathleen K; Ortiz, Alberto A; Politei, Juan J; Ponce, Elvira E; Varas, Carmen C; Weidemann, Frank F; Yang, Meng M; Wilcox, William R WR

Publication Date: 2020-12

Variant appearance in text: GLA: Arg301Gln

PubMed Link: 33163363

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2020-12

Variant appearance in text: GLA: R301Q

PubMed Link: 33072516

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.

International Journal Of Molecular Sciences

Braunstein, Hila H; Papazian, Maria M; Maor, Gali G; Lukas, Jan J; Rolfs, Arndt A; Horowitz, Mia M

Publication Date: 2020-10-07

Variant appearance in text: GLA: R301Q

PubMed Link: 33036426

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.

Case Reports In Nephrology

Vanga, Amaresh R AR; Schrier Vergano, Samantha A SA; Kowalewska, Jolanta J; McCune, Thomas R TR

Publication Date: 2020

Variant appearance in text: GLA: R301Q

PubMed Link: 33014486

Variant Present in the following documents:

• Main text
• CRIN2020-8899703.pdf

View BVdb publication page

---

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: R301Q

PubMed Link: 32995357

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 902G>A; R301Q

PubMed Link: 32843101

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1494.pdf

View BVdb publication page

---

Bridging the Gap Between Vessels and Nerves in Fabry Disease.

Frontiers In Neuroscience

Forstenpointner, Julia J; Sendel, Manon M; Moeller, Paul P; Reimer, Maren M; Canaan-Kühl, Sima S; Gaedeke, Jens J; Rehm, Stefanie S; Hüllemann, Philipp P; Gierthmühlen, Janne J; Baron, Ralf R

Publication Date: 2020

Variant appearance in text: GLA: 902G>A

PubMed Link: 32612493

Variant Present in the following documents:

• Main text
• fnins-14-00448.pdf

View BVdb publication page

---

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: 902G>A; R301Q

PubMed Link: 32023956

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.

International Journal Of Molecular Sciences

Liguori, Ludovica L; Monticelli, Maria M; Allocca, Mariateresa M; Hay Mele, Bruno B; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2020-01-13

Variant appearance in text: GLA: R301Q

PubMed Link: 31940970

Variant Present in the following documents:

• Main text
• ijms-21-00489.pdf

View BVdb publication page

---

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

The Biochemical Journal

Seemann, Susanne S; Ernst, Mathias M; Cimmaruta, Chiara C; Struckmann, Stephan S; Cozma, Claudia C; Koczan, Dirk D; Knospe, Anne-Marie AM; Haake, Linda Rebecca LR; Citro, Valentina V; Bräuer, Anja U AU; Andreotti, Giuseppina G; Cubellis, Maria Vittoria MV; Fuellen, Georg G; Hermann, Andreas A; Giese, Anne-Katrin AK; Rolfs, Arndt A; Lukas, Jan J

Publication Date: 2020-01-31

Variant appearance in text: GLA: 902G>A; R301Q

PubMed Link: 31899485

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Indian Journal Of Nephrology

Jaurretche, Sebastián P A SPA; Antongiovanni, Norberto N; Perretta, Fernando F

Publication Date: 2019

Variant appearance in text: GLA: R301Q

PubMed Link: 31798221

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Circulating microRNAs in Fabry Disease.

Scientific Reports

Xiao, Ke K; Lu, Dongchao D; Hoepfner, Jeannine J; Santer, Laura L; Gupta, Shashi S; Pfanne, Angelika A; Thum, Sabrina S; Lenders, Malte M; Brand, Eva E; Nordbeck, Peter P; Thum, Thomas T

Publication Date: 2019-10-24

Variant appearance in text: GLA: R301Q

PubMed Link: 31649303

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51805.pdf

View BVdb publication page

---

The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study

Balkan Medical Journal

Barman, Hasan Ali HA; İkitimur, Barış B; Kılıçkıran Avcı, Burçak B; Durmaz, Eser E; Atıcı, Adem A; Aslan, Serkan S; Ceylaner, Serdar S; Karpuz, Hakan H

Publication Date: 2019-10-28

Variant appearance in text: GLA: 902G>A; Arg301Gln; rs104894828

PubMed Link: 31446751

Variant Present in the following documents:

• Main text
• BMJ-36-354.pdf

View BVdb publication page

---