U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 967

1.
Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy
Alessandro Salviati, Alessandro P. Burlina, Walter Borsini
Neurol Sci. 2010; 31(3): 299–306. Published online 2010 Mar 19. doi: 10.1007/s10072-009-0211-y
PMCID:
PMC2869001
ArticlePubReaderPDF–177KCite
2.
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease
Constantin Gatterer, Dietrich Beitzke, Senta Graf, Max Lenz, Gere Sunder-Plassmann, Christopher Mann, Markus Ponleitner, Robert Manka, Daniel Fritschi, Pierre-Alexandre Krayenbuehl, Philipp Kamm, Olivier Dormond, Frédéric Barbey, Pierre Monney, Albina Nowak
Life (Basel) 2023 May; 13(5): 1213. Published online 2023 May 19. doi: 10.3390/life13051213
PMCID:
PMC10222787
ArticlePubReaderPDF–965KCite
3.
Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach
Adrian A. Michalski, Karol Lis, Joanna Stankiewicz, Sylwester M. Kloska, Arkadiusz Sycz, Marek Dudziński, Katarzyna Muras-Szwedziak, Michał Nowicki, Stanisława Bazan-Socha, Michal J. Dabrowski, Grzegorz W. Basak
J Clin Med. 2023 May; 12(10): 3599. Published online 2023 May 22. doi: 10.3390/jcm12103599
PMCID:
PMC10219252
ArticlePubReaderPDF–1.9MCite
4.
Early onset of nephrogenic diabetes insipidus due to fabry disease in a child with GLA N215S mutation: Case report and literature review
Zhihong Lu, Yan Wang, Langping Gao, Li Lin, Lidan Hu, Jianhua Mao
Heliyon. 2023 May; 9(5): e15993. Published online 2023 May 6. doi: 10.1016/j.heliyon.2023.e15993
PMCID:
PMC10189486
ArticlePubReaderPDF–4.3MCite
5.
Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report
Evangelia Bei, Alexios S Antonopoulos, Georgios Tsivgoulis, Charalambos Vlachopoulos
Eur Heart J Case Rep. 2023 May; 7(5): ytad224. Published online 2023 Apr 30. doi: 10.1093/ehjcr/ytad224
PMCID:
PMC10187784
ArticlePubReaderPDF–757KCite
6.
Age-related neuroimmune signatures in dorsal root ganglia of a Fabry disease mouse model
Jeiny Luna Choconta, Verena Labi, Cristiana Dumbraveanu, Theodora Kalpachidou, Kai K. Kummer, Michaela Kress
Immun Ageing. 2023; 20: 22. Published online 2023 May 12. doi: 10.1186/s12979-023-00346-8
PMCID:
PMC10176851
ArticlePubReaderPDF–4.9MCite
7.
Fabry Disease and Its Management: A Literature Analysis
Smruti M Besekar, Sangita D Jogdand, Waqar M Naqvi
Cureus. 2023 Apr; 15(4): e37048. Published online 2023 Apr 2. doi: 10.7759/cureus.37048
PMCID:
PMC10154914
ArticlePubReaderPDF–296KCite
8.
Cardiac magnetic resonance in Fabry disease
Chiara Lanzillo, Elisa Fedele, Annamaria Martino, Alessandro Ferrazza, Armando Fusco, Elisa Silvetti, Stefano Canestrelli, Fabiana Romeo, Emanuele Canali, Lucia De Luca, Paolo Golia, Cinzia Crescenzi, Matteo Stefanini, Leonardo Calò
Eur Heart J Suppl. 2023 May; 25(Suppl C): C200–C204. Published online 2023 Apr 26. doi: 10.1093/eurheartjsupp/suad045
PMCID:
PMC10132562
ArticlePubReaderPDF–239KCite
9.
The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
Ebru Özpelit, Yüksel Çavuşoğlu, Hikmet Yorgun, Emir Özgür Barış Okçün, Rabia Eker Akıllı, Ahmet Çelik, Necip Ermiş, Demet Menekşe Gerede Uludağ, Gökhan Kahveci, Şefika Uslu Çil, Erkan Erfidan, Omaç Tüfekçioğlu
Anatol J Cardiol. 2023 Apr; 27(4): 223–228. Published online 2023 Apr 1. doi: 10.14744/AnatolJCardiol.2022.2503
PMCID:
PMC10098383
ArticlePubReaderPDF–573KCite
10.
Estimation of Health State Utility Values in Fabry Disease Using Vignette Development and Valuation
Derralynn Hughes, Andrew Lenny, Koonal Shah, Louise Longworth, Giovanna Devercelli, Olulade Ayodele
J Health Econ Outcomes Res. 2023; 10(1): 80–88. Published online 2023 Apr 10. doi: 10.36469/001c.71344
PMCID:
PMC10095067
ArticlePubReaderPDF–270KCite
11.
Relationship of Vessel Density to Vessel Length Density in Patients with Treated Fabry Disease
Maximilian Robert Justus Wiest, Mario Damiano Toro, Albina Nowak, Anahita Bajka, Katrin Fasler, Mayss Al-Sheikh, Timothy Hamann, Sandrine Anne Zweifel
Diagnostics (Basel) 2023 Apr; 13(7): 1227. Published online 2023 Mar 24. doi: 10.3390/diagnostics13071227
PMCID:
PMC10093750
ArticlePubReaderPDF–777KCite
12.
Prevalence of Fabry disease-causing variants in the UK Biobank
Mark Gilchrist, Francesco Casanova, Jess S Tyrrell, Stuart Cannon, Andrew R Wood, Nicole Fife, Katherine Young, Richard A Oram, Michael N Weedon
J Med Genet. 2023 Apr; 60(4): 391–396. Published online 2022 Aug 17. doi: 10.1136/jmg-2022-108523
PMCID:
PMC10086508
ArticlePubReaderPDF–334KCite
13.
The evolution of the initial manifestations and renal involvement of chinese patients with classical and late-onset Fabry disease at different sexes and ages
Wenkai Guo, Yuansheng Xie, Pengcheng Ji, Shuang Li, Guangyan Cai, Xiangmei Chen
BMC Nephrol. 2023; 24: 90. Published online 2023 Apr 5. doi: 10.1186/s12882-023-03138-w
PMCID:
PMC10074707
ArticlePubReaderPDF–1.1MCite
14.
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure
Amber de Haan, Chantal F Morel, Mark Eijgelsheim, Margriet F C de Jong, Jan Broekroelofs, Liffert Vogt, Nine V A M Knoers, Martin H de Borst
Clin Kidney J. 2023 Apr; 16(4): 722–726. Published online 2022 Dec 15. doi: 10.1093/ckj/sfac269
PMCID:
PMC10061419
ArticlePubReaderPDF–292KCite
15.
Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse
Elisenda Cortés-Saladelafont, Julián Fernández-Martín, Saida Ortolano
Int J Mol Sci. 2023 Mar; 24(6): 5246. Published online 2023 Mar 9. doi: 10.3390/ijms24065246
PMCID:
PMC10049671
ArticlePubReaderPDF–860KCite
16.
Proteomic Approaches and Potential Applications in Autosomal Dominant Polycystic Kidney Disease and Fabry Disease
Merita Rroji, Andreja Figurek, Goce Spasovski
Diagnostics (Basel) 2023 Mar; 13(6): 1152. Published online 2023 Mar 17. doi: 10.3390/diagnostics13061152
PMCID:
PMC10047122
ArticlePubReaderPDF–898KCite
17.
Magnitude of the Potential Screening Gap for Fabry Disease in Manitoba: A Population-Based Retrospective Cohort Study
Reid H. Whitlock, Mohammad Nour-Mohammadi, Sarah Curtis, Paul Komenda, Clara Bohm, David Collister, Navdeep Tangri, Claudio Rigatto
Can J Kidney Health Dis. 2023; 10: 20543581231162218. Published online 2023 Mar 20. doi: 10.1177/20543581231162218
PMCID:
PMC10031591
ArticlePubReaderPDF–716KCite
18.
Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto
Open Heart. 2023; 10(1): e002251. Published online 2023 Mar 16. doi: 10.1136/openhrt-2023-002251
PMCID:
PMC10030781
ArticlePubReaderPDF–823KCite
19.
Increased cardiac involvement in Fabry disease using blood-corrected native T1 mapping
Jannike Nickander, Ben Cole, Sabrina Nordin, Ravi Vijapurapu, Richard P. Steeds, James C. Moon, Peter Kellman, Martin Ugander, Rebecca Kozor
Sci Rep. 2023; 13: 4420. Published online 2023 Mar 17. doi: 10.1038/s41598-023-31211-9
PMCID:
PMC10023696
ArticlePubReaderPDF–1.0MCite
20.
Recurrent Cerebrovascular Complications under Enzyme Replacement Therapy in a Patient with Fabry Disease on Peritoneal Dialysis
Reiko Muto, Yasuhiro Suzuki, Hideaki Shimizu, Kaoru Yasuda, Takuji Ishimoto, Shoichi Maruyama, Yasuhiko Ito, Masashi Mizuno
Intern Med. 2023 Feb 15; 62(4): 565–569. Published online 2022 Jul 14. doi: 10.2169/internalmedicine.0185-22
PMCID:
PMC10017251
ArticlePubReaderPDF–1.3MCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center