Results 41 to 50 of about 35,392 (213)

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]

, 2015
BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora, Di Domenico, Carmela, Nigro, Ersilia, Pisani, Antonio, Riccio, Eleonora, Salvatore, Francesco   +5 more
core   +3 more sources

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

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

Cells Dynamically Adapt Their Nuclear Volumes and Proliferation Rates During Single to Multicellular Transitions

Advanced Science, EarlyView.
It is currently not well understood how cells regulate basic properties, e.g., volume and mechanics within dense multicellular environments like tumors. Here, we show that different cell types of cancer and also normal cells largely decrease their nuclear and cellular volumes in emerging cell clusters and that this is partly driven by cell cycle shifts.
Vaibhav Mahajan, Keshav Gajendra Babu, Markus Mukenhirn, Antje Garside, Vinita Ajit Kini, Trishla Adhikari, Timon Beck, Byung Ho Lee, Kyoohyun Kim, Carsten Werner, Raimund Schlüßler, Alf Honigmann, Sebastian Aland, Anna Verena Taubenberger   +13 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

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

Quantum Dots for Biomedical Biosensing, NIR‐II Bioimaging, and Phototherapy: Materials Design, Signal Transduction, and Translational Barriers

Advanced Science, EarlyView.
This review outlines bottom‐up and biomimetic fabrication strategies of quantum dots, and highlights their emerging applications in biosensing, multimodal bioimaging, and intelligent cancer theranostics. It further discusses key translational barriers and future perspectives for advancing QD‐based nanomedicine toward clinical implementation.
Jie Ju, Zhifang Liu, Xinran Gao, Wen Sun, Wei Fu, Yanfei Wang   +5 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