Results 11 to 20 of about 60,446 (292)

Fabry or not Fabry – a question of ascertainment [PDF]

European Journal of Human Genetics, 2011
Fabry disease, an X-linked sphingolipidosis,1 is the most common lysosomal storage disease in Norway.2 Affected individuals may be offered intravenous enzyme replacement therapy, every second week at a cost of about 200 000 per year for an average adult. To prevent organ damage, early treatment is probably the best. Accordingly, Fabry disease screening
Gunnar, Houge, Camilla, Tøndel, Oyvind, Kaarbøe, Asle, Hirth, Leif, Bostad, Einar, Svarstad   +5 more
openaire   +2 more sources

Fabry Cardiomyopathy [PDF]

Journal of Cardiovascular Ultrasound, 2013
Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body.
Yoon, Jae Yong, Song, Joon Hyuk, Cheon, Sang Soo, Cho, Hyun Jun, Bae, Myung Hwan, Lee, Jang Hoon, Yang, Dong Heon, Park, Hun Sik, Cho, Yongkeun, Chae, Shung Chull   +9 more
openaire   +2 more sources

Long-time optical transmittance measurements of silica nanofibers [PDF]

EPJ Web of Conferences, 2020
We perform long-time measurements of the optical silica transmittance during several months in different environments and with different nanofiber lengths.
Bouhadida Maha, Lebrun Sylvie
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   +69 more
core   +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

Determination of scattering coefficient and scattering anisotropy factor of tissue-mimicking phantoms using line-field confocal optical coherence tomography (LC-OCT)

Journal of the European Optical Society-Rapid Publications, 2023
Line-field Confocal Optical Coherence Tomography (LC-OCT) is an imaging modality based on a combination of time-domain optical coherence tomography and reflectance confocal microscopy.
Waszczuk Léna, Ogien Jonas, Pain Frédéric, Dubois Arnaud   +3 more
doaj   +1 more source

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

Light Extraction and Brightness Enhancement of Luminescent Rectangular Slabs

Advanced Photonics Research, 2022
The extraction efficiency and the brightness are critical parameters to increase the performance of luminescent rectangular slabs such as scintillators, luminescent concentrators, or diamonds with NV centers.
Pierre Pichon, Lisa Lopez, Maxime Nourry-Martin, Stéphane Darbon, Frederic Druon, Patrick Georges, François Balembois   +6 more
doaj   +1 more source

Short pulse generation with 40 GHz passively-mode locked Q-dashed Fabry-Pérot laser [PDF]

, 2009
Generation of sub-picosecond pulses by a DC-biased passively mode-locked Fabry-Perot laser is demonstrated. By using a tunable band-pass filter, it is observed that the width of the generated pulses decreases in direct proportion to the optical modes ...
Latkowski, Sylwester, Sylwester Latkowski, Maldonado-Basilio, Ramón, Pascal Landais, Ramon Maldonado-Basilio, Landais, Pascal   +5 more
core   +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