Results 71 to 80 of about 9,399,207 (308)

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

Fabry-betegség – terápiás útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Gulácsy V, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi L, Medvecz, Márta, Molnár S, Müller, Veronika, Nagy V, Németh, Krisztina, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Székely A, Tóth B, Varga, Edit, Vastagh, Ildikó   +29 more
core   +2 more sources

Smart Catheters for Diagnosis, Monitoring, and Therapy

Advanced Healthcare Materials, EarlyView.
This study presents a comprehensive review of smart catheters, an emerging class of medical devices that integrate embedded sensors, robotics, and communication systems, offering increased functionality and complexity to enable real‐time health monitoring, diagnostics, and treatment. Abstract This review explores smart catheters as an emerging class of
Azra Yaprak Tarman, Samiha Ahmed, Majed Othman Althumayri, Megan Guy, Darlenne Chavez Lugo, Frances S. Ligler, George T. Ligler, Rahmi Oklu, Hiroshi Kawahira, Michael J. McShane, Jun Kameoka, Jonathan Bova, Hatice Ceylan Koydemir   +12 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

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

Biomarkers in Anderson–Fabry Disease

International Journal of Molecular Sciences, 2020
Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of ...
I. Simonetta, A. Tuttolomondo, M. Daidone, A. Pinto   +3 more
semanticscholar   +1 more source

Curvy Surface Reconstruction

Advanced Science, EarlyView.
This review introduces the concept of “general curvy surface reconstruction,” which incorporates both geometric and physical dimensions, representing an upgrade over conventional geometric reconstruction that focuses solely on spatial relationships. Particular emphasis is placed on the emerging opportunities enabled by advanced measurement techniques ...
Chen Shang, Haoyu Qi, Zhigang Wang, Keyu Meng, Zeye Liu, Zeng Meng, Yu Yang, Jianjun Wang, Shan Jiang   +8 more
wiley   +1 more source

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +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

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +1 more source