Zobrazeno 1 - 10
of 5 013
pro vyhledávání: '"Carla E"'
Autor:
Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited evidence is available on patient preferences for gene therapy in this population. In this study, we compare g
Externí odkaz:
https://doaj.org/article/6aa6f1ea34a14fd6949ec163980388bd
Autor:
Eline C. B. Eskes, Laura vanDussen, Johannes M. F. G. Aerts, Martijn J. C. van derLienden, Mario Maas, Erik M. Akkerman, André B. P. vanKuilenburg, Barbara Sjouke, Carla E. M. Hollak
Publikováno v:
JIMD Reports, Vol 65, Iss 5, Pp 330-340 (2024)
Abstract The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross‐sectional data on vi
Externí odkaz:
https://doaj.org/article/6e02d9fd1f0b494caa1a38c1774c7e0e
Autor:
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxychol
Externí odkaz:
https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de
Autor:
Shamoon Naseem, Jakub Zahumenský, Carla E. Lanze, Lois M. Douglas, Jan Malínský, James B. Konopka
Publikováno v:
mSphere, Vol 9, Iss 12 (2024)
ABSTRACT The plasma membrane is critical for the virulence of the human fungal pathogen Candida albicans. In addition to functioning as a protective barrier, the plasma membrane plays dynamic roles in a wide range of functions needed for virulence in
Externí odkaz:
https://doaj.org/article/c34ccab149d844f982cdac1a2acaf5c8
Autor:
Marc J. Sirks, Yousif Subhi, Noa Rosenberg, Carla E. M. Hollak, Camiel J. F. Boon, Roselie M. H. Diederen, Suzanne Yzer, Jeannette Ossewaarde-van Norel, Yvonne de Jong-Hesse, Reinier O. Schlingemann, Rob J. Moss, Elon H. C. van Dijk
Publikováno v:
Ophthalmology and Therapy, Vol 13, Iss 7, Pp 1821-1831 (2024)
Abstract An ongoing global shortage of verteporfin (Visudyne®) limits the treatment possibilities for several chorioretinal diseases, including central serous chorioretinopathy, choroidal hemangioma, and polypoidal choroidal vasculopathy. Verteporfi
Externí odkaz:
https://doaj.org/article/60faf01a850a4f1aaaa101568053ffbe
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 110-115 (2024)
Abstract Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose‐restricted diet, patients develop long‐term complications including cognitive impairment. There is an ongoing
Externí odkaz:
https://doaj.org/article/b62be939fa8541ff82ff87261d76a400
Publikováno v:
IEEE Open Journal of Antennas and Propagation, Vol 5, Iss 6, Pp 1598-1611 (2024)
This article provides a comprehensive overview of calibrating a correlation-based channel sounder designed for the low terahertz (THz) frequency range. The calibration process outlined herein encompasses fundamental aspects, including the calibration
Externí odkaz:
https://doaj.org/article/48a6bc2889a24b9691a6a1417c2b529d
Publikováno v:
IEEE Open Journal of Vehicular Technology, Vol 5, Pp 1374-1385 (2024)
This paper present an initial approach to the analysis of the stationarity of time-variant channels in industrial environments, focusing on three distinct scenarios: 1) communication between a static access point (AP) and a sensor node (SN) mounted o
Externí odkaz:
https://doaj.org/article/13db7d43ad32440dbd7b5ba6b9428f9d
Publikováno v:
IEEE Access, Vol 12, Pp 65241-65253 (2024)
In this study, we explore a hybrid non-orthogonal multiple access and time division multiple access (NOMA-TDMA) approach designed to maximize sum throughput in a wireless powered Internet of Things (IoT) network (WPIN). Hybrid access points send ener
Externí odkaz:
https://doaj.org/article/f6b06067677948febb986badf9a6c920
Publikováno v:
IEEE Access, Vol 12, Pp 37692-37701 (2024)
Conventional communications systems centered on data prioritize maximizing network throughput using Shannon’s theory, which is primarily concerned with securely transmitting the data despite limited radio resources. However, in the realm of edge le
Externí odkaz:
https://doaj.org/article/477c9627db6346bab021cd64a6dc366c