Results 41 to 50 of about 16,061 (232)

Long-Term Outcomes of Kidney Transplantation in Fabry Disease [PDF]

, 2018
BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity.
Mueller, Thomas F, Müller, Thomas F; https://orcid.org/, Sima Canaan-Kühl, Barbey, F., Desnick, R.J., Flammer, A.J., Frédéric Barbey, Flammer, Andreas J, Thomas F. Mueller, Mueller, T.F., Uyen Huynh-Do, Ersözlü, Sara, Huynh-Do, Uyen, Stefan Schaub, Canaan-Kühl, Sima, Albina Nowak, Huynh-Do, U., Robert J. Desnick, Schaub, Stefan, Nowak, A., Desnick, Robert J, Barbey, Frédéric, Andreas J. Flammer, Ersözlü, S., Nowak, Albina, Vera Genitsch, Cheetham, Marcus, Cheetham, M., Sara Ersözlü, Genitsch, Vera, Schaub, S., Marcus Cheetham, Canaan-Kühl, S., Genitsch, V.   +33 more
core   +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

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end ...
Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic   +6 more
doaj   +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   +2 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

3D Bioprinted Breast Cancer‐Stroma Model with Tailored Migration‐Permissive Bioink Reveals Impact of Adipose‐Derived Stromal Cells on Cancer Cell Migration and Invasion Dynamics

Advanced Healthcare Materials, EarlyView.
A migration‐permissive bioink composed of methacrylated collagen type I and thiolated hyaluronic acid enables 3D bioprinting of breast cancer‐stroma models. Single‐cell tracking reveals that adipose stromal cells enhance tumor cell motility and stromal invasion, accompanied by collagen remodeling, and a shift in tumor cell morphology.
Sabrina Stecher, Joachim Schenk, Alessandro Cianciosi, Katherina Hemmen, David Böhringer, Franziska Dusi, Jessica Faber, Philipp Stahlhut, Benedikt Gantert, Emilie Rouenhoff, Annika Gmöhling, Tessa Lühmann, Jörg Teßmar, Jürgen Groll, Silvia Budday, Tomasz Jüngst, Ben Fabry, Katrin G. Heinze, Petra Bauer‐Kreisel, Torsten Blunk   +19 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

From Flexible to Conformable Pressure Sensors: Mechanisms, Materials, and Biomedical Applications

Advanced Electronic Materials, EarlyView.
This review highlights recent progress, challenges and future opportunities in pressure sensing for advanced biomedical applications. We summarize key transduction mechanisms and emerging material strategies, discuss representative wearable and implantable applications for continuous physiological monitoring and provide a focused perspective on barrier
Rishabh B. Mishra, Andrea Ottomaniello, Virgilio Mattoli   +2 more
wiley   +1 more source

Biomarkers in Anderson–Fabry Disease [PDF]

, 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 ...
Antonio Pinto, Antonino Tuttolomondo, Mario Daidone, Irene Simonetta   +3 more
core   +4 more sources