Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Fabian Peeks"'
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Akademický článek
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures
Autor: Annieke Venema, Fabian Peeks, Marlies deBruijn‐van der Veen, Foekje deBoer, Marieke J. Fokkert‐Wilts, Charlotte M. A. Lubout, Bibi Huskens, Eric Dumont, Sandra Mulkens, Terry G. J. Derks
Publikováno v: JIMD Reports, Vol 63, Iss 1, Pp 29-40 (2022)
Abstract There is a paucity in literature on eating and psychosocial problems in patients with hepatic glycogen storage disease (GSD) and idiopathic ketotic hypoglycemia (IKH), problems that can greatly affect quality of life. This is a monocentre, r
Externí odkaz: https://doaj.org/article/2a4e7ff12ed04a0580d7280fc7f68574
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2
Akademický článek
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia
Autor: Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer
Publikováno v: JHEP Reports, Vol 4, Iss 8, Pp 100512- (2022)
Background & Aims: Glycogen storage disease type Ia (GSDIa) is an inborn error of carbohydrate metabolism caused by pathogenic variants in the glucose-6-phosphatase catalytic subunit 1 (G6PC1) gene and is associated with hepatocellular adenoma (HCA)
Externí odkaz: https://doaj.org/article/c6cb44c1113f4e3fbd9c89e7b4f0c7d6
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3
Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders
Autor: Annieke Venema, Fabian Peeks, Alessandro Rossi, Emmalie A. Jager, Terry G. J. Derks
Publikováno v: Journal of Inherited Metabolic Disease, 45(6), 1018-1027. SPRINGER
Value-based healthcare (VBHC) intends to achieve better outcomes for patients, to improve quality of patient care, with reduced costs. Four dimensions define a model of intimately related value-pillars: personal value, allocative value, technical val
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2de9d0cc3bac03ca34f46946ff5b65
https://pubmed.ncbi.nlm.nih.gov/36088581
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4
Research priorities for liver glycogen storage disease
Autor: Lut de Baere, Katherine Cowan, Marcus Landgren, Thomas Casswall, Niccolò Seidita, Iris A. Ferrecchia, Alberto Ferriani, Caroline Gimbert, Willemijn F Boonstra, Fabian Peeks, Terry G J Derks, Camilla Carøe, Nerea López Maldonado, Damián Cohen, Jason McMillan, David A. Weinstein, Antal Nemeth, Ute Stachelhaus-Theimer
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(2), 279-289. SPRINGER
The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. The multiphase methodology followed the principles of the James Lind Alliance (JLA) gu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4578244ff3acaa681c12b78b9458458a
https://research.rug.nl/en/publications/73241fa9-5e9d-4a71-8cb4-9e00acbc17f3
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5
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
Autor: Rob Burghard, Melanie M. van der Klauw, Maaike H. Oosterveer, Irene J Hoogeveen, R Lude Feldbrugge, Foekje de Boer, Marieke J Fokkert-Wilts, Terry G J Derks, Fabian Peeks
Publikováno v: Journal of Inherited Metabolic Disease, 44(5), 1136-1150. SPRINGER
Journal of Inherited Metabolic Disease
Continuous glucose monitoring (CGM) systems have great potential for real-time assessment of glycaemic variation in patients with hepatic glycogen storage disease (GSD). However, detailed descriptions and in-depth analysis of CGM data from hepatic GS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702b3d4c3292c874dfc1d07c14fee9c9
https://research.rug.nl/en/publications/f2790862-2982-4c9f-ba55-f8614aa7fb7f
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6
Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia
Autor: Folkert Kuipers, Amanda C. M. Pronk, Gilles Mithieux, Karen van Eunen, Trijnie Bos, Dirk-Jan Reijngoud, Sander Kooijman, Terry G J Derks, Joanne A Hoogerland, Fabian Peeks, Henk Wolters, Theo H. van Dijk, Albert Gerding, Aycha Bleeker, Rick Havinga, Brenda S. Hijmans, Patrick C.N. Rensen, Maaike H. Oosterveer, Fabienne Rajas, Justina C. Wolters
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, Online ahead of print. ⟨10.1002/jimd.12380⟩
Journal of Inherited Metabolic Disease, 44(4). SPRINGER
Journal of Inherited Metabolic Disease, 44(4), 879-892. WILEY
Prevention of hypertriglyceridemia is one of the biomedical targets in Glycogen Storage Disease type 1a (GSD Ia) patients, yet it is unclear how hypoglycemia links to plasma triglyceride (TG) levels. We analyzed whole-body TG metabolism in normoglyce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2e70557e685d57e656dfad5f52ad8b
https://pubmed.ncbi.nlm.nih.gov/33739445
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7
The potential of dietary treatment in patients with glycogen storage disease type IV
Autor: Edyta Szymańska, Marieke J Fokkert-Wilts, Foekje de Boer, Patrick T Ryan, David A. Weinstein, Marius C. van den Heuvel, Fabian Peeks, Terry G J Derks, Hubert P. J. van der Doef, Dariusz Rokicki
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(3), 693-704. SPRINGER
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a20fbe1b5fd1c2dc7bec27bdecd650
https://pubmed.ncbi.nlm.nih.gov/33332610
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8
Safety issues associated with dietary management in patients with hepatic glycogen storage disease
Autor: Thomas A. H. Steunenberg, Carolina Fischinger Moura de Souza, Terry G J Derks, Foekje de Boer, Irene J Hoogeveen, Helen Mundy, John J. Mitchell, David A. Weinstein, Charlotte M A Lubout, Fabian Peeks
Publikováno v: Molecular Genetics and Metabolism, 125(1-2), 79-85. ACADEMIC PRESS INC ELSEVIER SCIENCE
Introduction Hepatic glycogen storage diseases (GSDs) are a group of inherited disorders of carbohydrate metabolism for which dietary management is the cornerstone. Safety and acute complications associated with dietary management have been poorly do
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e76cea96b8ff1cc315fbf690fe6d67eb
https://doi.org/10.1016/j.ymgme.2018.07.004
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9
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
Autor: Tom J. de Koning, Francjan J. van Spronsen, Foekje de Boer, Terry G J Derks, Robert Jan Zandvoort, Sebastiaan te Boekhorst, Irene J Hoogeveen, Fabian Peeks, Charlotte M A Lubout, Rob Burghard
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(6), 929-936. SPRINGER
BackgroundThe purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD).Meth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5650b57b2a5f665b346a1f0e27a47aa9
http://europepmc.org/articles/PMC6326981
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10
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
Autor: Maaike H. Oosterveer, Rob Burghard, Fabian Peeks, Fabienne Rajas, Thomas A. H. Steunenberg, Terry G J Derks, Monique Williams, David A. Weinstein, Foekje de Boer, M. Estela Rubio-Gozalbo
Publikováno v: Journal of Inherited Metabolic Disease, 40(5), 695-702. SPRINGER
Journal of Inherited Metabolic Disease, 40(5), 695-702. Wiley
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2017, 40 (5), pp.695-702. ⟨10.1007/s10545-017-0039-1⟩
Journal of Inherited Metabolic Disease, 40(5), 695-702. Springer Netherlands
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase).STUDY DESIGN: Descriptive retrospective
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044b9958ef9974b9063035e49273c0f9
https://research.rug.nl/en/publications/0d43a3f9-a916-4e4f-a50d-72de23c54dd8
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