Results 91 to 100 of about 4,907,795 (224)

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

Orphanet Journal of Rare Diseases
Background Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series.
Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin   +4 more
doaj   +1 more source

Wearable OLED‐Assisted Photodynamic Cancer Therapy Using Chlorin e6‐Loaded Pluronic Nanocapsules as Photosensitizers

Advanced Healthcare Materials, Volume 15, Issue 33, 4 September 2026.
A novel photodynamic therapeutic approach has been employed for anticancer therapy, utilizing chlorin e6‐loaded Pluronic nanocapsules and a wearable organic light‐emitting diode light source. This has shown significant in vivo antitumor efficacy with minimal off‐target toxicity. The innovative combination of a wearable light source and photosensitizers
Hyeryeon Oh, Seung Min Jeong, Cheol Hui Park, Panmo Son, Yeseo Lee, Heebeom Koo, Won Il Choi, Kyung Cheol Choi   +7 more
wiley   +1 more source

Podocyturia in Fabry disease

Jornal Brasileiro de Nefrologia, 2016
Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22). Such changes result in the reduction/absence of activity of the lysosome enzyme α-GAL, whose function is to metabolize globotriaosylceramide (Gb3). Renal disease is a major clinical outcome of the accumulation of Gb3.
Ester Miranda, Pereira, Adalberto Socorro da, Silva, Anatália, Labilloy, José Tiburcio do, Monte Neto, Semiramis Jamil Hadad do, Monte   +4 more
openaire   +2 more sources

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease

Biomedicines
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour ...
Dominique P. Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong, Najya Bedreddine, Mihaela Turcan, Wenting Trang, Lynda Barache   +6 more
doaj   +1 more source

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +1 more source

Fabry’s Disease Cardiomyopathy

Journal of the American College of Cardiology, 2006
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Pieroni, Maurizio, Chimenti, Cristina, De Cobelli, Francesco, Morgante, Emanuela, Del Maschio, Alessandro, Gaudio, Carlo, Russo, Matteo Antonio, Frustaci, Andrea   +7 more
openaire   +2 more sources

Screening for the Frequency of Fabry Disease in Patients Followed Up in the Nephrology Outpatient Clinic

Background: The goal of this study was to determine the prevalence of Fabry disease in the nephrology outpatient clinic population, whose diagnosis is frequently delayed despite the availability of enzyme replacement therapy today.
Demirci, Meltem Sezis, Seray Saray, Aygül Çeltik, Mümtaz Yılmaz, Celtik, Ayguel, Asci, Gulay, Meltem Seziş Demirci, Saray, Seray, Atay, Gokhan, Yilmaz, Mumtaz, Gökhan Atay, Gülay Aşçı   +11 more
core   +1 more source

Cognitive dysfunction and depression in Fabry disease: a systematic review.

, 2014
Background Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders.
David J. Werring, Lachmann, RH, Robin H. Lachmann, CIPOLOTTI, Lisa, Fay E. Bolsover, Werring, DJ, Elaine Murphy, Lisa Cipolotti, Bolsover, FE, Murphy, E   +9 more
core   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions [PDF]

, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
core   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source