Zobrazeno 1 - 10
of 6 457
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:
Glasius, B., author
Publikováno v:
Geschiedenis der Christelijke Kerk en Godsdienst in de Nederlanden vóór het Vestigen der Hervorming.: Tweede Deel. :198-270
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.1,2 (AUTHOR) a.b.vankuilenburg@amsterdamumc.nl, Hollak, Carla E. M.2,3,4 (AUTHOR), Travella, Ana5 (AUTHOR), Jacobs, Melisa5 (AUTHOR), Gentilini, Lucas D.5 (AUTHOR), Leen, René1,2 (AUTHOR), der Vlugt, Karen M. M. Ghauharali-van1,2 (AUTHOR), Stet, Femke S. Beers1,2 (AUTHOR), Goorden, Susan M. I.1,2 (AUTHOR), van der Veen, Sanne2,3,4 (AUTHOR), Criscuolo, Marcelo5 (AUTHOR), Papouchado, Mariana5 (AUTHOR)
Publikováno v:
Drugs in R&D. Jun2023, Vol. 23 Issue 2, p141-153. 13p.
Autor:
Eskes, Eline C. B., van Dussen, Laura, Aerts, Johannes M. F. G., van der Lienden, Martijn J. C., Maas, Mario, Akkerman, Erik M., van Kuilenburg, André B. P., Sjouke, Barbara, Hollak, Carla E. M.
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2024, Vol. 65 Issue 5, p330-340, 11p