Zobrazeno 1 - 10
of 1 631
pro vyhledávání: '"van Kuilenburg, A."'
Autor:
Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Fu
Externí odkaz:
https://doaj.org/article/d5440151ce024f64b7170c28c47217da
Autor:
van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wasserman, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, André B.P.
Publikováno v:
In Genetics in Medicine June 2024 26(6)
Autor:
Hapgood, Greg, Hill, Kate, Okano, Satomi, Abro, Emad, Looke, David, Kennedy, Glen, Pavilion, Gilbert, Van Kuilenburg, Rosita, Geary, Alanna, Joubert, Warren, Eastgate, Melissa, Jones, Mark, Mollee, Peter
Publikováno v:
In Journal of Thrombosis and Haemostasis November 2024
Autor:
André B. P. van Kuilenburg, Carla E. M. Hollak, Ana Travella, Melisa Jacobs, Lucas D. Gentilini, René Leen, Karen M. M. Ghauharali-van der Vlugt, Femke S. Beers Stet, Susan M. I. Goorden, Sanne van der Veen, Marcelo Criscuolo, Mariana Papouchado
Publikováno v:
Drugs in R&D, Vol 23, Iss 2, Pp 141-153 (2023)
Abstract Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies have been authorized, with agalsidase b
Externí odkaz:
https://doaj.org/article/6b2d93e11b6841dfa83050c783069b9b
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 156-160 (2023)
Abstract We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or co
Externí odkaz:
https://doaj.org/article/a0a54efbb8de4179bd4ad9a5613b7b6c
Autor:
McIntyre, Rebecca L., Molenaars, Marte, Schomakers, Bauke V., Gao, Arwen W., Kamble, Rashmi, Jongejan, Aldo, van Weeghel, Michel, van Kuilenburg, André B.P., Possemato, Richard, Houtkooper, Riekelt H., Janssens, Georges E.
Publikováno v:
In Cell Reports 31 January 2023 42(1)
Akademický článek
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Autor:
van Kuilenburg, André B.P., Pleunis-van Empel, Marjolein C.H., Brouwer, Rick B., Sijben, Angelique E.J., Knapen, Daan G., Oude Munnink, Thijs H., van Zanden, Jelmer J., Janssens-Puister, Jenny, Dobritzsch, Doreen, Meinsma, Rutger, Meijer-Jansen, Judith, van Dooren, Silvy J.M., Vijzelaar, Raymon, Pop, Ana, Salomons, Gajja S., Maring, Jan Gerard, Niezen-Koning, Klary E.
Publikováno v:
JCO Precision Oncology; 12/1/2024, Vol. 8, p1-7, 7p
Autor:
Rebecca L. McIntyre, Marte Molenaars, Bauke V. Schomakers, Arwen W. Gao, Rashmi Kamble, Aldo Jongejan, Michel van Weeghel, André B.P. van Kuilenburg, Richard Possemato, Riekelt H. Houtkooper, Georges E. Janssens
Publikováno v:
Cell Reports, Vol 42, Iss 1, Pp 111928- (2023)
Summary: The human population is aging, and the need for interventions to slow progression of age-related diseases (geroprotective interventions) is growing. Repurposing compounds already used clinically, usually at modified doses, allows rapid imple
Externí odkaz:
https://doaj.org/article/a500213dab204e5bbc1eb68838e73572
Akademický článek
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