Results 151 to 160 of about 9,399,207 (308)

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

The Kidney in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj   +1 more source

Опыт ведения пациентов с болезнью Фабри после изменения дозы или смены препарата в процессе проведения ферментозаместительной терапии

Нервно-мышечные болезни, 2015
В связи с перебоями в поставках агалсидазы бета в 2009 г. многие пациенты с болезнью Фабри (БФ) были переведены на терапию меньшими дозами этого фермента или на лечение другим ферментом – агалсидазой альфа.

doaj  

The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease [PDF]

, 2019
Simon Körver, Sara A.J. van de Schraaf, Gert J. Geurtsen, Carla E. M. Hollak, Ivo N. van Schaik, Mirjam Langeveld   +5 more
openalex   +1 more source

Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is the most frequently occurring form of lysosomal disease in Japan, and is characterized by a wide variety of conditions. Primarily, the three major types of concerns associated with Fabry disease observed during adulthood that must be ...
Hiroshi Kobayashi, Norio Nakata, Sayoko Izuka, Kenichi Hongo, Masako Nishikawa   +4 more
doaj   +1 more source

Parsing Fabry Disease Metabolic Plasticity Using Metabolomics [PDF]

, 2021
Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Aubert, Olivier Benvéniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri, Abdellah Tebani   +10 more
openalex   +1 more source

Optical Coherence Tomography Angiography Findings in Fabry Disease [PDF]

, 2019
Gilda Cennamo, Laura Giovanna Di Maio, Daniela Montorio, Fausto Tranfa, Camilla Russo, Giuseppe Pontillo, Sirio Cocozza, Roberta Esposito, Teodolinda Di Risi, Massimo Imbriaco, Letìzia Spinelli, Eleonora Riccio, Antonio Pisani   +12 more
openalex   +1 more source

Optimizing human α-galactosidase for treatment of Fabry disease [PDF]

, 2023
William C. Hallows, Kristen J. Skvorak, Nicholas J. Agard, Nikki Kruse, Xiyun Zhang, Yu Zhu, Rachel C. Botham, Chinping Chng, Charu Shukla, Jessica P. Lao, Matthew R. Miller, Antoinette Sero, Judy Viduya, Moulay Hicham Alaoui Ismaili, Kerryn McCluskie, Raphael Schiffmann, Adam P. Silverman, Jin‐Song Shen, Gjalt W. Huisman   +18 more
openalex   +1 more source

SAT-102 AUTOLOGOUS STEM CELL THERAPY USING LENTIVIRAL VECTOR FOR TREATMENT OF FABRY DISEASE [PDF]

, 2019
Andrew Talbot, Merlin C. Thomas, Kathy Nicholls, David Ritchie, Jeff Szer, B. Carnley, A. Morynko, M. Sturm, Shari Fallet, N. Kreher   +9 more
openalex   +1 more source

Surgical treatment of severe aortic valve stenosis with concomitant Fabry disease

, 2019
Athanasia Vlachou, Apostolos Gogakos, Angeliki Cheva, Georgios Drossos   +3 more
openalex   +1 more source