Zobrazeno 1 - 10
of 672
pro vyhledávání: '"A B P, Van Kuilenburg"'
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:
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:
Thomas Blom, Rutger Meinsma, Franca di Summa, Emile van den Akker, André B. P. van Kuilenburg, Marten Hansen, Godelieve A. M. Tytgat
Publikováno v:
EJNMMI Research, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Background The therapeutic use of [131I]meta-iodobenzylguanidine ([131I]MIBG) is often accompanied by hematological toxicity, primarily consisting of severe and persistent thrombocytopenia. We hypothesize that this is caused by selective upt
Externí odkaz:
https://doaj.org/article/e3482717233340d9b6a012d2838da30a
Autor:
Thomas Blom, Rutger Meinsma, Marja Rutgers, Corine Buitenhuis, Marieke Dekken-Van den Burg, André B. P. van Kuilenburg, Godelieve A. M. Tytgat
Publikováno v:
EJNMMI Research, Vol 10, Iss 1, Pp 1-12 (2020)
Abstract Background The therapeutic use of [131I]meta-iodobenzylguanidine ([131I]MIBG) is often accompanied by hematological toxicity, mainly consisting of persistent and severe thrombocytopenia. While MIBG accumulates in neuroblastoma cells via sele
Externí odkaz:
https://doaj.org/article/0e95c18dbaee417495963f09c52009dc
Autor:
Chiara Milanese, Cíntia R. Bombardieri, Sara Sepe, Sander Barnhoorn, César Payán-Goméz, Donatella Caruso, Matteo Audano, Silvia Pedretti, Wilbert P. Vermeij, Renata M. C. Brandt, Akos Gyenis, Mirjam M. Wamelink, Annelieke S. de Wit, Roel C. Janssens, René Leen, André B. P. van Kuilenburg, Nico Mitro, Jan H. J. Hoeijmakers, Pier G. Mastroberardino
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
ERCC1 is involved in a number of DNA repair pathways including nucleotide excision repair. Here the authors showed that reduced transcription in Ercc1-deficient mouse livers and cells increases ATP levels, suppressing glycolysis and rerouting glucose
Externí odkaz:
https://doaj.org/article/0cc0fcac27b44c6fbf79164cbd22e050
Autor:
Marieke van der Pluijm, Arjen L. Sutterland, André B. P. van Kuilenburg, Lida Zoetekouw, Lieuwe de Haan, Jan Booij, Elsmarieke van de Giessen
Publikováno v:
Therapeutic Advances in Psychopharmacology, Vol 9 (2019)
Treatment resistance (TR) in psychosis is a major clinical problem. A biomarker predicting TR against conventional antipsychotic drugs would be relevant, potentially reducing unnecessary delay to adequate treatment with clozapine. Dopa decarboxylase
Externí odkaz:
https://doaj.org/article/d1e00fa428fa4502b80ca10cd6140481
Acute Aerobic Exercise Leads to Increased Plasma Levels of R- and S-β-Aminoisobutyric Acid in Humans
Autor:
Jan Stautemas, André B. P. Van Kuilenburg, Lida Stroomer, Fred Vaz, Laura Blancquaert, Filip B. D. Lefevere, Inge Everaert, Wim Derave
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Recently, it was suggested that β-aminoisobutyric acid (BAIBA) is a myokine involved in browning of fat. However, there is no evidence for an acute effect of exercise supporting this statement and the metabolic distinct enantiomers of BAIBA were not
Externí odkaz:
https://doaj.org/article/aa9c06565de8498089bf9f29e61ad10f
Autor:
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D’Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik
Publikováno v:
Human molecular genetics 32(1), 46-54 (2023). doi:10.1093/hmg/ddac173
Human molecular genetics, 32(1), 46-54. Oxford University Press
Human molecular genetics, 32(1), 46-54. Oxford University Press
Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5′UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due to the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de019e5e3fcd9c31a84a5673f0719a6c
Autor:
Merel E. Hermans, Michel van Weeghel, Frédéric M. Vaz, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, André B. P. van Kuilenburg, Mia L. Pras‐Raves, Mirjam M. C. Wamelink, Ronald J. A. Wanders, Mendy M. Welsink‐Karssies, Annet M. Bosch
Publikováno v:
Hermans, M E, van Weeghel, M, Vaz, F M, Ferdinandusse, S, Hollak, C E M, Huidekoper, H H, Janssen, M C H, van Kuilenburg, A B P, Pras-Raves, M L, Wamelink, M M C, Wanders, R J A, Welsink-Karssies, M M & Bosch, A M 2022, ' Multi-omics in classical galactosemia : Evidence for the involvement of multiple metabolic pathways ', Journal of Inherited Metabolic Disease, vol. 45, no. 6, pp. 1094-1105 . https://doi.org/10.1002/jimd.12548
Journal of inherited metabolic disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45, 1094-1105
Journal of Inherited Metabolic Disease, 45, 6, pp. 1094-1105
Journal of inherited metabolic disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45, 1094-1105
Journal of Inherited Metabolic Disease, 45, 6, pp. 1094-1105
Contains fulltext : 286854.pdf (Publisher’s version ) (Open Access) Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patien