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Select item 107977941.

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, on behalf of the Polish Fabry Disease Collaborative Group

Orphanet J Rare Dis. 2024; 19: 16. Published online 2024 Jan 18. doi: 10.1186/s13023-024-03028-w

Correction in:: Orphanet J Rare Dis. 2024; 19: 139.

PMCID:: PMC10797794

Article PDF–870K

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Article PDF–776K

Select item 88672893.

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

Albina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock

J Med Genet. 2022 Mar; 59(3): 287–293. Published online 2021 Jan 25. doi: 10.1136/jmedgenet-2020-107338

PMCID:: PMC8867289

Article PDF–530K

Select item 84655254.

Pathogenesis and Molecular Mechanisms of Anderson–Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies

Antonino Tuttolomondo, Irene Simonetta, Renata Riolo, Federica Todaro, Tiziana Di Chiara, Salvatore Miceli, Antonio Pinto

Int J Mol Sci. 2021 Sep; 22(18): 10088. Published online 2021 Sep 18. doi: 10.3390/ijms221810088

PMCID:: PMC8465525

Article PDF–1.2M

Select item 83793905.

Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis

Derralynn Hughes, Aleš Linhart, Andrey Gurevich, Vasiliki Kalampoki, Dalia Jazukeviciene, Sandro Feriozzi, On behalf of the FOS Study Group

Drug Des Devel Ther. 2021; 15: 3561–3572. Published online 2021 Aug 16. doi: 10.2147/DDDT.S313789

PMCID:: PMC8379390

Article PDF–595K

Select item 83534736.

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls

Mol Genet Metab Rep. 2021 Sep; 28: 100786. Published online 2021 Aug 4. doi: 10.1016/j.ymgmr.2021.100786

Correction in:: Mol Genet Metab Rep. 2021 Dec; 29: 100807.

PMCID:: PMC8353473

Article PDF–746K

Select item 83057717.

Fabry Cardiomyopathy: Current Treatment and Future Options

Irfan Vardarli, Manuel Weber, Christoph Rischpler, Dagmar Führer, Ken Herrmann, Frank Weidemann

J Clin Med. 2021 Jul; 10(14): 3026. Published online 2021 Jul 7. doi: 10.3390/jcm10143026

PMCID:: PMC8305771

Article PDF–1.1M

Select item 83019248.

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

Vincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, Antonella Giuliani, Leonardo Salviati, Giovanni Duro, Chiara Cazzorla, Laura Rubert, Evelina Maines, Dominique P Germain, Alberto B Burlina

Biomolecules. 2021 Jul; 11(7): 951. Published online 2021 Jun 27. doi: 10.3390/biom11070951

PMCID:: PMC8301924

Article PDF–810K

Select item 82193669.

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

João B Augusto, Nicolas Johner, Dipen Shah, Sabrina Nordin, Kristopher D Knott, Stefania Rosmini, Clement Lau, Mashael Alfarih, Rebecca Hughes, Andreas Seraphim, Ravi Vijapurapu, Anish Bhuva, Linda Lin, Natalia Ojrzyńska, Tarekegn Geberhiwot, Gabriella Captur, Uma Ramaswami, Richard P Steeds, Rebecca Kozor, Derralynn Hughes, James C Moon, Mehdi Namdar

Eur Heart J Cardiovasc Imaging. 2021 Jul; 22(7): 790–799. Published online 2020 Jun 8. doi: 10.1093/ehjci/jeaa101

PMCID:: PMC8219366

Article PDF–1.3M

Select item 817221110.

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

Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev

Mol Genet Genomic Med. 2021 May; 9(5): e1666. Published online 2021 Apr 9. doi: 10.1002/mgg3.1666

PMCID:: PMC8172211

Article PDF–1.0M

Select item 812306811.

Fabry Disease and the Heart: A Comprehensive Review

Olga Azevedo, Filipa Cordeiro, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Catarina Ferreira, Nuno Sousa, Damião Cunha

Int J Mol Sci. 2021 May; 22(9): 4434. Published online 2021 Apr 23. doi: 10.3390/ijms22094434

PMCID:: PMC8123068

Article PDF–3.1M

Select item 805455112.

Fabry disease pain: patient and preclinical parallels

Anthony J. Burand, Jr, Cheryl L. Stucky

Pain. 2021 May; 162(5): 1305–1321. Published online 2020 Nov 30. doi: 10.1097/j.pain.0000000000002152

PMCID:: PMC8054551

Article PDF–661K

Select item 802318913.

Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis

Alberto Ortiz, Steve Kanters, Alaa Hamed, Pronabesh DasMahapatra, Eugene Poggio, Manish Maski, Mario Aguiar, Elvira Ponce, Jeroen P Jansen, Dieter Ayers, Rachel Goldgrub, Robert J Desnick

Clin Kidney J. 2021 Apr; 14(4): 1136–1146. Published online 2020 May 22. doi: 10.1093/ckj/sfaa065

PMCID:: PMC8023189

Article PDF–597K

Select item 796170514.

Generation and Characterization of a Polyclonal Human Reference Antibody to Measure Anti-Drug Antibody Titers in Patients with Fabry Disease

Malte Lenders, David Scharnetzki, Ali Heidari, Daniele Di Iorio, Seraphine Valeska Wegner, Eva Brand

Int J Mol Sci. 2021 Mar; 22(5): 2680. Published online 2021 Mar 6. doi: 10.3390/ijms22052680

PMCID:: PMC7961705

Article PDF–3.7M

Select item 796001315.

Basilar Artery Changes in Fabry Disease

R. Manara, R.Y. Carlier, S. Righetto, V. Citton, G. Locatelli, F. Colas, M. Ermani, D.P. Germain, A. Burlina

AJNR Am J Neuroradiol. 2017 Mar; 38(3): 531–536. doi: 10.3174/ajnr.A5069

PMCID:: PMC7960013

Article PDF–985K

Select item 791833316.

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions

Ken Kok, Kimberley C. Zwiers, Rolf G. Boot, Hermen S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola

Biomolecules. 2021 Feb; 11(2): 271. Published online 2021 Feb 12. doi: 10.3390/biom11020271

PMCID:: PMC7918333

Article PDF–2.6M

Select item 790707517.

Lentivirus-mediated gene therapy for Fabry disease

Aneal Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin

Nat Commun. 2021; 12: 1178. Published online 2021 Feb 25. doi: 10.1038/s41467-021-21371-5

PMCID:: PMC7907075

Article PDF–1.9M

Select item 779074818.

Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Daniel G. Bichet, Johannes M. Aerts, Christiane Auray-Blais, Hiroki Maruyama, Atul B. Mehta, Nina Skuban, Eva Krusinska, Raphael Schiffmann

Genet Med. 2021; 23(1): 192–201. Published online 2020 Sep 30. doi: 10.1038/s41436-020-00968-z

Correction in:: Genet Med. 2021; 23(1): 238.

PMCID:: PMC7790748

Article PDF–759K

Select item 760686619.

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

Robert J. Hopkin, Ulla Feldt-Rasmussen, Dominique P. Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R. Wilcox

Mol Genet Metab Rep. 2020 Dec; 25: 100670. Published online 2020 Oct 30. doi: 10.1016/j.ymgmr.2020.100670