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4. Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes

Author

Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
hypoglycemia, newborn screening, very-long-chain acyl-CoA dehydrogenase deficiency, embryonic structures, food and beverages, cardiomyopathy, fatty acid oxidation, myopathy
Abstract

BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. METHODS: A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS. Main outcome measures were clinical outcome parameters, ACADVL gene analysis, VLCAD activity and overall capacity of long-chain fatty acid oxidation (LC-FAO flux) in lymphocytes and cultured skin fibroblasts. FINDINGS: Median VLCAD activity in lymphocytes of 54 patients, 21 diagnosed pre-NBS and 33 by NBS was respectively 5.4% (95% CI 4.0-8.3%) and 12.6% (95% CI 10.7-17.7%; p10% 7 out of 12 diagnosed pre-NBS versus none by NBS experienced hypoglycemic events. INTERPRETATIONS: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. The effect of NBS on prevalence and prevention of myopathy-related complications remains unclear. TAKE-HOME MESSAGE: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. This article is protected by copyright. All rights reserved.

Published
2019

5. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, Genetica Sectie Metabole Diagnostiek, Child Health, Activity&Health sectie exercise, Bleeker, Jeannette C., Visser, Gepke, Clarke, Kieran, Ferdinandusse, Sacha, de Haan, Ferdinand H., Houtkooper, Riekelt H., IJlst, Lodewijk, Kok, Irene L., Langeveld, Mirjam, van der Pol, W. Ludo, de Sain-van der Velden, Monique G.M., Sibeijn-Kuiper, Anita, Takken, Tim, Wanders, Ronald J.A., van Weeghel, Michel, Wijburg, Frits A., van der Woude, Luc H., Wüst, Rob C.I., Cox, Pete J., Jeneson, Jeroen A.L., Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, Genetica Sectie Metabole Diagnostiek, Child Health, Activity&Health sectie exercise, Bleeker, Jeannette C., Visser, Gepke, Clarke, Kieran, Ferdinandusse, Sacha, de Haan, Ferdinand H., Houtkooper, Riekelt H., IJlst, Lodewijk, Kok, Irene L., Langeveld, Mirjam, van der Pol, W. Ludo, de Sain-van der Velden, Monique G.M., Sibeijn-Kuiper, Anita, Takken, Tim, Wanders, Ronald J.A., van Weeghel, Michel, Wijburg, Frits A., van der Woude, Luc H., Wüst, Rob C.I., Cox, Pete J., and Jeneson, Jeroen A.L.

Published
2020

6. Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Visser, Gepke, additional, Clarke, Kieran, additional, Ferdinandusse, Sacha, additional, de Haan, Ferdinand H., additional, Houtkooper, Riekelt H., additional, IJlst, Lodewijk, additional, Kok, Irene L., additional, Langeveld, Mirjam, additional, van der Pol, W. Ludo, additional, de Sain‐van der Velden, Monique G. M., additional, Sibeijn‐Kuiper, Anita, additional, Takken, Tim, additional, Wanders, Ronald J. A., additional, van Weeghel, Michel, additional, Wijburg, Frits A., additional, van der Woude, Luc H., additional, Wüst, Rob C. I., additional, Cox, Pete J., additional, and Jeneson, Jeroen A. L., additional

Published
2020
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7. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, Alex, primary, Evans, Sharon, additional, Daly, Anne, additional, Almeida, Manuela Ferreira, additional, Assoun, Murielle, additional, Belanger-Quintana, Amaya, additional, Bernabei, Silvia Maria, additional, Bollhalder, Sandra, additional, Cassiman, David, additional, Champion, Helena, additional, Chan, Heidi, additional, Corthouts, Karen, additional, Dalmau, Jaime, additional, Boer, Foekje de, additional, Laet, Corinne De, additional, Meyer, An de, additional, Desloovere, An, additional, Dianin, Alice, additional, Dixon, Marjorie, additional, Dokoupil, Katharina, additional, Dubois, Sandrine, additional, Eyskens, Francois, additional, Faria, Ana, additional, Fasan, Ilaria, additional, Favre, Elisabeth, additional, Feillet, François, additional, Fekete, Anna, additional, Gallo, Giorgia, additional, Gingell, Cerys, additional, Gribben, Joanna, additional, Hansen, Kit Kaalund, additional, Horst, Nienke Ter, additional, Jankowski, Camille, additional, Janssen-Regelink, Renske, additional, Jones, Ilana, additional, Jouault, Catherine, additional, Kahrs, Gudrun Elise, additional, Kok, Irene, additional, Kowalik, Agnieszka, additional, Laguerre, Catherine, additional, Verge, Sandrine Le, additional, Liguori, Alessandra, additional, Lilje, Rina, additional, Maddalon, Cornelia, additional, Mayr, Doris, additional, Meyer, Uta, additional, Micciche, Avril, additional, Och, Ulrike, additional, Robert, Martine, additional, Rocha, Júlio César, additional, Rogozinski, Hazel, additional, Rohde, Carmen, additional, Ross, Kathleen, additional, Saruggia, Isabelle, additional, Schlune, Andrea, additional, Singleton, Kath, additional, Sjoqvist, Elisabeth, additional, Skeath, Rachel, additional, Stolen, Linn Helene, additional, Terry, Allyson, additional, Timmer, Corrie, additional, Tomlinson, Lyndsey, additional, Tooke, Alison, additional, Kerckhove, Kristel Vande, additional, van Dam, Esther, additional, Hurk, Dorine van den, additional, Ploeg, Liesbeth van der, additional, van Driessche, Marleen, additional, van Rijn, Margreet, additional, Wegberg, Annemiek van, additional, Vasconcelos, Carla, additional, Vestergaard, Helle, additional, Vitoria, Isidro, additional, Webster, Diana, additional, White, Fiona, additional, White, Lucy, additional, Zweers, Heidi, additional, and MacDonald, Anita, additional

Published
2019
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8. Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, de Sain‐van der Velden, Monique G. M., additional, Rennings, Alexander J., additional, Schielen, Peter J. C. I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras‐Raves, Mia L., additional, Wanders, Ronald J. A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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10. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, Pol, W.Ludo van der, Cuppen, Inge, Bosch, A.M., Vries, M.C. de, Rennings, A.J., Dekkers, E., Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, Pol, W.Ludo van der, Cuppen, Inge, Bosch, A.M., Vries, M.C. de, Rennings, A.J., Dekkers, E., Wijburg, Frits A., and Visser, Gepke

Abstract

Contains fulltext : 203474.pdf (publisher's version ) (Open Access)

Published
2019

11. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., and Visser, Gepke

Published
2019

12. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

13. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Metabole ziekten onderzoek 1, Afdeling Dietetiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, Afdeling Dietetiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M., van Den Hurk, Dorine T., de Sain-van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., and Visser, Gepke

Published
2019

14. Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G.J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Gozalbo, Estela Rubio, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain‐van der Velden, Monique G.M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
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15. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, de Vries, Maaike, additional, Derks, Terry G. J., additional, Mulder, Margot F., additional, Williams, Monique, additional, Rubio Gozalbo, Estela, additional, Bosch, Annet M., additional, van den Hurk, Dorine T., additional, de Sain-van der Velden, Monique G. M., additional, Waterham, Hans R., additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
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16. A Decade of Newborn Screening for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Benefits, Complications and the Need for Long-Term Follow-Up

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F, additional, Gozalbo, Estela Rubio, additional, de Sain-van der Velden, Monique G.M., additional, Rennings, Alexander J., additional, Schielen, Peter J.C.I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras-Raves, Mia L., additional, Wanders, Ronald J.A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
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17. Hereditaire fructose-intolerantie

Author

Rumping, Lynne, Waterham, Hans R., Kok, Irene, van Hasselt, Peter M., Visser, Gepke, Amsterdam Gastroenterology Endocrinology Metabolism, and Laboratory Genetic Metabolic Diseases

Abstract

Hereditary fructose intolerance (HFI) is a rare metabolic disease affecting fructose metabolism. After ingestion of fructose, patients may present with clinical symptoms varying from indefinite gastrointestinal symptoms to life-threatening hypoglycaemia and hepatic failure. A 13-year-old boy was referred to the department of metabolic diseases because of an abnormal fructose loading test. He was known with persistent gastrointestinal symptoms since infancy. His dietary history revealed an avoidance of fruit and sweets. Because malabsorption was suspected, an oral fructose loading test was performed. During this test, he developed severe vagal symptoms which were probably caused by a potentially fatal hypoglycaemia. The diagnosis of HFI was confirmed by genetic analysis. A good dietary history may be of important help in the diagnosis of HFI. On suspicion of HFI, genetic analysis is easy and the first choice in the diagnostic work-up. With timely diagnosis and adequate dietary treatment patients have an excellent prognosis. Fructose loading tests as part of the diagnostics can be dangerous

Published
2014

18. Dietary practices in methylmalonic acidaemia: a European survey

Author

Pinto, Alex, Evans, Sharon, Daly, Anne, Almeida, Manuela Ferreira, Assoun, Murielle, Belanger-Quintana, Amaya, Bernabei, Silvia Maria, Bollhalder, Sandra, Cassiman, David, Champion, Helena, Chan, Heidi, Corthouts, Karen, Dalmau, Jaime, Boer, Foekje de, Laet, Corinne De, Meyer, An de, Desloovere, An, Dianin, Alice, Dixon, Marjorie, Dokoupil, Katharina, Dubois, Sandrine, Eyskens, Francois, Faria, Ana, Fasan, Ilaria, Favre, Elisabeth, Feillet, François, Fekete, Anna, Gallo, Giorgia, Gingell, Cerys, Gribben, Joanna, Hansen, Kit Kaalund, Horst, Nienke Ter, Jankowski, Camille, Janssen-Regelink, Renske, Jones, Ilana, Jouault, Catherine, Kahrs, Gudrun Elise, Kok, Irene, Kowalik, Agnieszka, Laguerre, Catherine, Verge, Sandrine Le, Liguori, Alessandra, Lilje, Rina, Maddalon, Cornelia, Mayr, Doris, Meyer, Uta, Micciche, Avril, Och, Ulrike, Robert, Martine, Rocha, Júlio César, Rogozinski, Hazel, Rohde, Carmen, Ross, Kathleen, Saruggia, Isabelle, Schlune, Andrea, Singleton, Kath, Sjoqvist, Elisabeth, Skeath, Rachel, Stolen, Linn Helene, Terry, Allyson, Timmer, Corrie, Tomlinson, Lyndsey, Tooke, Alison, Kerckhove, Kristel Vande, van Dam, Esther, Hurk, Dorine van den, Ploeg, Liesbeth van der, van Driessche, Marleen, van Rijn, Margreet, Wegberg, Annemiek van, Vasconcelos, Carla, Vestergaard, Helle, Vitoria, Isidro, Webster, Diana, White, Fiona, White, Lucy, Zweers, Heidi, and MacDonald, Anita

Published
2020
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20. Usefulness of open mixed nut challenges to exclude tree nut allergy in children

Author

Longziekten onderzoek 1, Child Health, MS Dermatologie/Allergologie, Infection & Immunity, Afdeling Dietetiek, Longziekten patientenzorg, Cluster A, Van Erp, Francine C, Knulst, André C, Kok, Irene L, van Velzen, Maartje F, van der Ent, Cornelis K., Meijer, Yolanda, Longziekten onderzoek 1, Child Health, MS Dermatologie/Allergologie, Infection & Immunity, Afdeling Dietetiek, Longziekten patientenzorg, Cluster A, Van Erp, Francine C, Knulst, André C, Kok, Irene L, van Velzen, Maartje F, van der Ent, Cornelis K., and Meijer, Yolanda

Published
2015

22. HRM implementeren op de werkvloer: Een uitdaging voor lijnmanagers

Author

Bos-Nehles, Anna, van Riemsdijk, Maarten, Looise, Jan Kees, Kok, Irene, and Faculty of Behavioural, Management and Social Sciences

Abstract

Volgens gangbare opvattingen in het HRM-denken moet de uitvoering van HR-beleid aan de direct leidinggevenden worden overgelaten. Dat blijkt makkelijker gezegd dan gedaan. In de afgelopen jaren werden in onderzoek vijf factoren geïdentificeerd die de effectiviteit van de implementatie van HRM door direct leidinggevenden beperken. In dit artikel presenteren we het resultaat van een verkennend onderzoek in vier business units van internationale bedrijven om vast te stellen in hoeverre die vijf factoren door lijnma- nagers zelf worden herkend, of nog andere factoren door hen worden aangegeven en of er een rangorde in de factoren is aan te brengen. Het blijkt dat vier van de vijf daadwer- kelijk een probleem vormen en dat daarnaast steeds andere factoren in verschillende bedrijven een rol spelen. Kwantitatief onderzoek is geboden om vast te stellen welke factoren er onder verschillende omstandigheden echt toe doen.

Published
2006

24. [Hereditary fructose intolerance].

Author

Rumping L, Waterham HR, Kok I, van Hasselt PM, and Visser G

Subjects
Adolescent, Diagnosis, Differential, Diet statistics & numerical data, Fructose metabolism, Humans, Hypoglycemia chemically induced, Male, Fructose adverse effects, Fructose Intolerance diagnosis, Fructose Intolerance genetics
Abstract

Background: Hereditary fructose intolerance (HFI) is a rare metabolic disease affecting fructose metabolism. After ingestion of fructose, patients may present with clinical symptoms varying from indefinite gastrointestinal symptoms to life-threatening hypoglycaemia and hepatic failure., Case Description: A 13-year-old boy was referred to the department of metabolic diseases because of an abnormal fructose loading test. He was known with persistent gastrointestinal symptoms since infancy. His dietary history revealed an avoidance of fruit and sweets. Because malabsorption was suspected, an oral fructose loading test was performed. During this test, he developed severe vagal symptoms which were probably caused by a potentially fatal hypoglycaemia. The diagnosis of HFI was confirmed by genetic analysis., Conclusion: A good dietary history may be of important help in the diagnosis of HFI. On suspicion of HFI, genetic analysis is easy and the first choice in the diagnostic work-up. With timely diagnosis and adequate dietary treatment patients have an excellent prognosis. Fructose loading tests as part of the diagnostics can be dangerous.

Published
2014

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