Results 81 to 90 of about 66,696 (145)

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

Design of composite optical nanofibers for new all-solid-state Raman wavelength converters

Journal of the European Optical Society-Rapid Publications
We present the design of composite optical nanofibers (ONF) coated with thin layers of nonlinear materials, Titanium dioxyde (TiO2) and Polymethyl methacrylate (PMMA), for the realization of new all-solid Raman wavelength converters for an emission ...
Lebrun Sylvie, Bouhadida Maha, Dampt Théo, Fauvel Mathieu, Larat Christian, Azzoune Abderrahim, Beugnot Jean-Charles, Divay Laurent   +7 more
doaj   +1 more source

Doença de Fabry Fabry disease

Anais Brasileiros de Dermatologia, 2009
A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados.
Paula Boggio, Paula Carolina Luna, María Eugenia Abad, Margarita Larralde   +3 more
openaire   +1 more source

Fabry or not Fabry: From genetics to diagnosis

, 2015
Fabry disease is a lysosomal storage disorder with an X-linked pattern of inheritance. Fabry disease is caused by impaired degradation and accumulation of the glycosphingolipid globotriaosylceramide, due to a deficiency of the enzyme α-Galactosidase A.
van der Tol, Linda, Hollak, C.E.M.
openaire   +3 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

Dizziness in Fabry Disease

Biomedicines
Background/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness/balance issues and whether it is due to peripheral, central, or ...
Aslak Broby Johansen, Ulla Feldt-Rasmussen, Mads Klokker   +2 more
openaire   +4 more sources

Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare, progressive disorder caused by pathogenic variants of the GLA gene resulting in the accumulation of toxic metabolites. Pain is a hallmark of FD, and patients often present with heterogeneous pain profiles.
Eric Wallace, Dawn Laney, Ibrahim Warsi, Connie Baldwin, Jack Johnson, Joseph Kupferman, Pronabesh DasMahapatra, Nicole Lyn   +7 more
doaj   +1 more source

Fabry-P\'erot Huygens' Metasurfaces: On Homogenization of Electrically Thick Composites

, 2019
Realization of the anomalous refraction effects predicted by Huygens' metasurfaces (HMS) have required tedious and time-consuming trial-and-error numerical full-wave computations.
Ariel Epstein (14356830), Sherman W. Marcus (14356824)   +1 more
core   +1 more source

Inline Amplification of Mid-Infrared Intrapulse Difference Frequency Generation [PDF]

EPJ Web of Conferences, 2022
Bournet Quentin, Guichard Florent, Natile Michele, Zaouter Yoann, Zheng Antoine, Joffre Manuel, Bonvalet Adeline, Jonusas Mindaugas, Druon Frédéric, Hanna Marc, Georges Patrick   +10 more
doaj   +1 more source

Chaotic dynamics in passively Q-switched Tm:LiYF4 laser operating at 2.3 μm on the 3H4 → 3H5 transition

APL Photonics
We report on the chaotic dynamics in a passively Q-switched 2.3-μm thulium laser operating on the 3H4 → 3H5 transition. The experiment exploits a Tm:LiYF4 crystal and various laser cavity configurations, involving an optional cascade laser on the 3F4 ...
Hippolyte Dupont, Matthieu Glasset, Pavel Loiko, Patrick Georges, Frédéric Druon   +4 more
doaj   +1 more source