Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Clara D van Karnebeek"'
Autor:
Nadia Y. van Silfhout, Maud M. van Muilekom, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Introduction Rare genetic neurodevelopmental disorders and intellectual disability (ID), collectively called genetic ID (GID), can profoundly impact daily functioning and overall well-being of affected individuals. To improve our understandi
Externí odkaz:
https://doaj.org/article/867cad4038a642219531ff65d47c129a
Autor:
Liz van de Riet, Anna M. Aris, Nick W. Verouden, Tibor van Rooij, Job B.M. van Woensel, Clara D. van Karnebeek, Mattijs W. Alsem
Publikováno v:
PEC Innovation, Vol 4, Iss , Pp 100280- (2024)
Objective: Hospital-to-home (H2H) transitions challenge families of children with medical complexity (CMC) and healthcare professionals (HCP). This study aimed to gain deeper insights into the H2H transition process and to work towards eHealth interv
Externí odkaz:
https://doaj.org/article/76823ec1ba554d28ab0c97d370bd25fb
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 38, Iss , Pp 101264- (2024)
Externí odkaz:
https://doaj.org/article/c600e47e64454d01835063d2a4f79093
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 36, Iss , Pp 101233- (2023)
Rationale: Loss-of-function (LoF) mutations in GRIN2B result in neurologic abnormalities due to N-methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual developmental disability (IDD),
Externí odkaz:
https://doaj.org/article/adbda0d94cdd40879d421b91290d512c
Autor:
Liz van de Riet, MD, Marieke H. Otten, MD, PhD, Clara D. van Karnebeek, MD, PhD, Job B. M. van Woensel, MD, PhD, on behalf of the PICE study group, Casper W. Bollen, Jeroen R. ter Horst, Richard H. Klein, Jan Willem Kuiper, Maaike A Riedijk, Carin W.M. Verlaat, Dick A van Waardenburg
Publikováno v:
Critical Care Explorations, Vol 4, Iss 12, p e0798 (2022)
OBJECTIVES:. To describe time trends and the burden of long-stay patients (LSP) and frequent-readmission patients (FRP) in the PICUs in The Netherlands. DESIGN:. Retrospective analysis of data from the nationwide Pediatric Intensive Care Evaluation r
Externí odkaz:
https://doaj.org/article/ab56b1e82bb946249e085b4bd72678aa
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
Autor:
Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been
Externí odkaz:
https://doaj.org/article/ef0d68c278b0451791bc867d815c5db9
Autor:
Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Nutrients, Vol 11, Iss 11, p 2572 (2019)
Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalan
Externí odkaz:
https://doaj.org/article/8336d24fdd254e619523ebeab572d96b
Autor:
Agnies M, van Eeghen, Hilgo, Bruining, Nicole I, Wolf, Arthur A, Bergen, Riekelt H, Houtkooper, Mieke M, van Haelst, Clara D, van Karnebeek
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at an earlie
Autor:
Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates. The introduction of second-tier testing has
Externí odkaz:
https://doaj.org/article/a70005a921aa4b2b8c8a16bc3efd1d3c