Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Foekje de Boer"'
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Akademický článek
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
Autor: Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Publikováno v: Nutrients, Vol 13, Iss 11, p 3828 (2021)
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,
Externí odkaz: https://doaj.org/article/49373e0a313c4a1bbb2b3940a73fdda6
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2
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease typeIIIaare phenotype-specific
Autor: Kieran Clarke, Jeroen A. L. Jeneson, Ulrike Steuerwald, Caroline J. van Der Schaaf, Irene J. Hoogeveen, Johannes H. van der Hoeven, Terry G J Derks, Riemer J K Vegter, Anita Sibeijn-Kuiper, M. Rebecca Heiner-Fokkema, Pete J. Cox, Foekje de Boer, Willemijn F. Boonstra
Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(1), 226-239. SPRINGER
Glycogen storage disease type IIIa (GSDIIIa) is an inborn error of carbohydrate metabolism caused by a debranching enzyme deficiency. A subgroup of GSDIIIa patients develops severe myopathy. The purpose of this study was to investigate whether acute
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d95f29e4a4f463ab5e8357e64fbea93
https://research.rug.nl/en/publications/bc84bb86-6b20-4e80-b93d-4a9c06728a65
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3
Dietary lipids in glycogen storage disease type III
Autor: A. Bordugo, Irene J Hoogeveen, Surekha Pendyal, Foekje de Boer, Chiara Montanari, Serena Gasperini, Giancarlo Parenti, Vanessa B Bastek, Carmen Campana, U. Meyer, A. Rossi, Daniela Melis, Pietro Strisciuglio, Arianna Maiorana, Miriam Rigoldi, S. Paci, Terry G J Derks, Priya S. Kishnani, A. Dianin, Rossella Parini
Publikováno v: Journal of Inherited Metabolic Disease, 43(4), 770-777. SPRINGER
Journal of Inherited Metabolic Disease
A potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipul
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca899d23e9d7d79f046f34c6ab01b0ca
https://hdl.handle.net/11370/b25022a6-ef4f-49a7-9091-b9ac6ed7c808
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4
Dietary practices in methylmalonic acidaemia: a European survey
Autor: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche
Publikováno v: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter
Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277
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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
Glycogen storage disease type Ia: Current management options, burden and unmet needs
Autor: A. Rossi, Heather Saavedra, Philippe Labrune, Vassili Valayannopoulos, Ayesha Ahmad, Nerea López Maldonado, Terry G J Derks, Sarah C. Grünert, David Rodriguez-Buritica, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, John J. Mitchell, Rupal Naik Gupta, Foekje de Boer, María L. Couce
Publikováno v: Nutrients, Vol 13, Iss 3828, p 3828 (2021)
Nutrients
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d4565a19f5564200028a2a927bb03d
http://hdl.handle.net/11588/876032
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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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9
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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10
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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