Results 21 to 30 of about 66,696 (145)

Fabry Disease [PDF]

Orphanet Journal of Rare Diseases, 2010
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase
openaire   +3 more sources

Electrical generation of visible surface plasmon polaritons by a nanopillars antenna array

APL Photonics, 2021
Electrical excitation of surface plasmon polaritons by inelastic tunneling electrons has been put forward as a potential nanosource that can be used in a variety of on-chip optoelectronic applications.
Cheng Zhang, Jean-Paul Hugonin, Anne-Lise Coutrot, Benjamin Vest, Jean-Jacques Greffet   +4 more
doaj   +1 more source

Power scaling of LED-pumped alexandrite: The road to high gain multipass amplifiers [PDF]

EPJ Web of Conferences
Our experiment demonstrates that LED-pumping through luminescent concentrator enables sufficient pump power for viable alexandrite amplifier gain. In 10 passes we obtain a gain of 19 with 10 W output power, for 50 µs pulses at 20 Hz and 760 nm.
Thellier Elio, Taleb Hussein, Le Blanc Catherine, Pichon Pierre, Druon Frédéric, Georges Patrick, Balembois François   +6 more
doaj   +1 more source

Radiative heat exchange driven by acoustic modes between two solids at the atomic scale [PDF]

EPJ Web of Conferences, 2023
In the near field (for separation distances smaller than the thermal wavelength, of the order of some microns at ambient temperature), the radiative heat flow between two solids at different temperatures can exceed the blackbody limit by several orders ...
Gómez Viloria Mauricio, Guo Yangyu, Merabia Samy, Messina Riccardo, Ben-Abdallah Philippe   +4 more
doaj   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W, Mullen W, Scherl A, Wanner C, Mischak H, Siwy J, Hughes DA, Serra AL, Breunig F, Kistler AD, Jeevaratnam P, Warnock DG, Wüthrich RP   +81 more
core   +1 more source

Fabry disease

Romanian Journal of Neurology, 2018
Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis.
Ioana Simina Barac, Doru Flaviu Tomesc, Adina Stan, Vitalie Vacaras, Fior Dafin Muresanu   +4 more
openaire   +2 more sources

Micro-machining Techniques for the Fabrication of Fibre Fabry-Perot Sensors [PDF]

, 2006
Fabry-Perot optical fibre sensors have been used extensively for measuring a variety of parameters such as strain, temperature, pressure and vibration. Conventional extrinsic fibre Fabry-Perot sensors are associated with problems such as calibration of ...
Machavaram, V. R.
core   +4 more sources

Spatial sampling of the thermospheric vertical wind field at auroral latitudes [PDF]

, 2011
Results are presented from two nights of bistatic Doppler measurements of neutral thermospheric winds using Fabry!Perot spectrometers at Mawson and Davis stations in Antarctica.
Davies, Theo, Conde, Mark, Kosch, Michael, Dyson, Peter, Anderson, Callum   +4 more
core   +5 more sources

Study of self-heated tapered silica microfibers by laser in air [PDF]

EPJ Web of Conferences
We present measurements of the temperature of optical microfibers self-heated by a cw laser emitting at 1.48 μm. The experimental method we have implemented is simple and enables to perform for the first time to our knowledge spatially distributed ...
Liss Ludivine, Abdedou Yanis, Weng Ruiling, Jeunesse Pierre, Hecquet Christophe, Nogrette Florence, Delaye Philippe, Besbes Mondher, Salvi Jérôme, Beugnot Jean-Charles, Lebrun Sylvie   +10 more
doaj   +1 more source

Gas-pressure tuning of wavelength of photon pair emitted by Four-Wave-Mixing in Nanofibers [PDF]

EPJ Web of Conferences, 2022
We present experimental results demonstrating the possibility to tune the wavelength of the photon pair emitted through four wave mixing in a nanofiber, using the pressure of a gas surrounding the nanofiber. Using Argon, a shift of idler wavelength of -1.
Bonifacio Agathe, Lebrun Sylvie, Zerbib Maxime, Romanet Maxime, Beugnot Jean-Charles, Delaye Philippe   +5 more
doaj   +1 more source