Zobrazeno 1 - 10
of 248
pro vyhledávání: '"Carla E M Hollak"'
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:
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182379 (2017)
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. T
Externí odkaz:
https://doaj.org/article/ea56d1ada2864a8fb3f8dce736ad5be2
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
Autor:
Anneloes E Bohte, Laura van Dussen, Erik M Akkerman, Aart J Nederveen, Ralph Sinkus, Peter L M Jansen, Jaap Stoker, Carla E M Hollak
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57507 (2013)
Long term liver-related complications of type-1 Gaucher disease (GD), a lysosomal storage disorder, include fibrosis and an increased incidence of hepatocellular carcinoma. Splenectomy has been implicated as a risk factor for the development of liver
Externí odkaz:
https://doaj.org/article/16e06e9e0c82460da57466c074a7e8a4
Autor:
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47805 (2012)
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction. We inv
Externí odkaz:
https://doaj.org/article/430552f7237642d1bf77438f9ca510a1
Autor:
Anouk C Vedder, Gabor E Linthorst, Gunnar Houge, Johannna E M Groener, Els E Ormel, Berto J Bouma, Johannes M F G Aerts, Asle Hirth, Carla E M Hollak
Publikováno v:
PLoS ONE, Vol 2, Iss 7, p e598 (2007)
Two different enzyme preparations, agalsidase alfa (Replagal(TM), Shire) and beta (Fabrazyme(TM), Genzyme), are registered for treatment of Fabry disease. We compared the efficacy of and tolerability towards the two agalsidase preparations administer
Externí odkaz:
https://doaj.org/article/7637ac20457243d8ad529605a618aae4
Autor:
Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower
Externí odkaz:
https://doaj.org/article/1b8a6b840b9d4608bd5f0495820e0ce9