Results 51 to 60 of about 9,220,596 (237)

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Clinical Genetics, 2019
Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A).
D. Germain, A. Fouilhoux, S. Decramer, M. Tardieu, P. Pillet, M. Fila, S. Rivera, G. Deschênes, D. Lacombe   +8 more
semanticscholar   +1 more source

Fabry cardiomyopathy presenting with a high defibrillation threshold: A short case report

Journal of Arrhythmia, 2015
Fabry disease is an X-linked recessive glycosphingolipid storage disorder caused by a deficiency of lysosomal enzyme α-galactosidase A. It is recognized that Fabry disease patients often have ventricular arrhythmias.
Takashi Kanda, MD, Masaharu Masuda, MD, Akihiro Sunaga, MD, Masashi Fujita, MD, PhD, Osamu Iida, MD, Shin Okamoto, MD, Takayuki Ishihara, MD, Kiyonori Nanto, MD, Tatsuya Shiraki, MD, Fusako Sera, MD, Masaaki Uematsu, MD, PhD   +10 more
doaj   +1 more source

Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report

Türk Kardiyoloji Derneği Arşivi, 2016
Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies.
Ahmet Taha Alper, Adnan Kaya, Ahmet İlker Tekkesin, Ahmet Oz   +3 more
doaj   +1 more source

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic ...
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney   +8 more
doaj   +1 more source

Implantable, Label‐Free NIR‐Based Porous Silicon Biosensor for Monitoring Biomarkers in Interstitial Fluid

Advanced Sensor Research, EarlyView.
Implantable biosensors hold the promise to revolutionize the way disease diagnosis and progression during treatment are viewed. However, in the current state of art, their efficiency is limited by certain material challenges. Porous Silicon (pSi) is a viable material for in vivo monitoring of biomarkers, and its potential as an implantable biosensor is
Pritam Sharma, Jann Harberts, Raquel Sánchez‐Salcedo, Pouya Dehghankelishadi, Nicolas Hans Voelcker   +4 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Diagnosis and Screening of Patients with Fabry Disease

Therapeutics and Clinical Risk Management, 2020
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3 ...
I. Vardarli, C. Rischpler, K. Herrmann, F. Weidemann   +3 more
semanticscholar   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

Turkish Archives of Otorhinolaryngology, 2023
Objective:Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a ...
Ekin Yiğit Köroğlu, Asena Gökçay Canpolat, Suna Yılmaz, Özgür Demir   +3 more
doaj   +1 more source