Search Results - "Beek, Nadine A M E"

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients by van Capelle, Carine I., van der Beek, Nadine A. M. E., de Vries, Juna M., van Doorn, Pieter A., Duivenvoorden, Hugo J., Leshner, Robert T., Hagemans, Marloes L. C., van der Ploeg, Ans T.

“…Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically…”
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Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain by Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, Beek, Nadine A M E, Lequin, Maarten H, Ploeg, Ans T, Hout, Johanna M P

“…Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement…”
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Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients by van der Meijden, Jan C, Kruijshaar, Michelle E, Rizopoulos, Dimitris, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T

“…Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and…”
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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review by Ditters, Imke A. M, van Kooten, Harmke A, van der Beek, Nadine A. M. E, van der Ploeg, Ans T, Huidekoper, Hidde H, van den Hout, Johanna M. P

“…Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy…”
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Burden of illness of Pompe disease in patients only receiving supportive care by Kanters, Tim A., Hagemans, Marloes L. C., van der Beek, Nadine A. M. E., Rutten, Frans F. H., van der Ploeg, Ans T., Hakkaart, Leona

“…Background Pompe disease is an orphan disease for which enzyme replacement therapy (ERT) recently became available. This study aims to estimate all relevant…”
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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 by Schoser, Benedikt, Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, Hout, Johanna M. P., Doorn, Pieter A., Wenninger, Stephan, Ploeg, Ans T.

“…Background and purpose Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization…”
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Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease by Lika, Aglina, Andrinopoulou, Eleni‐Rosalina, Beek, Nadine A. M. E., Rizopoulos, Dimitris, Ploeg, Ans T., Kruijshaar, Michelle E.

“…Pompe disease is a rare, progressive, and metabolic myopathy. Reduced pulmonary function is one of the main problems seen in adult patients with late‐onset…”
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Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism by Canibano‐Fraile, Rodrigo, Harlaar, Laurike, Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., Beek, Nadine A. M. E., Doorn, Pieter A., Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.

“…Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual…”
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Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy by van der Meijden, Jan C., Kruijshaar, Michelle E., Harlaar, Laurike, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E., van der Ploeg, Ans T.

“…Objectives Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have…”
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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study by Ditters, Imke A M, van der Beek, Nadine A M E, Brusse, Esther, van der Ploeg, Ans T, van den Hout, Johanna M P, Huidekoper, Hidde H

“…Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since…”
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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale by Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Beek, Nadine A. M. E., Kooten, H. A, Brusse, E., Doorn, P. A, Ploeg, A. T., Beek, N. A. M. E., Wenninger, S., Babačić, H., Schoser, B., Montagnese, F., Gracia Angarita, N., Lefeuvre, C., Taouagh, N., Laforêt, P., Béhin, A., Tard, C., Campana‐Salort, E., Sacconi, S., Solé, G., Spinazzi, M., Bouhour, F., Bouibede, F., Hamroun, D., Hogrel, J. Y., Segovia, S., Díaz‐Manera, J., Claeys, K.G., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Horton, M. C.

“…Background and purpose The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the…”
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Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients by Poelman, Esther, Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, Hout, Johanna M. P., Giessen, Lianne J., Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, Ploeg, Ans T.

“…The aim of this study was to compare the long‐term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow)…”
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PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease by Hagemans, Marloes L. C., Stigter, Rolinda L., van Capelle, Carine I., van der Beek, Nadine A. M. E., Winkel, Leon P. F., van Vliet, Laura, Hop, Wim C. J., Reuser, Arnold J. J., Beishuizen, Auke, van der Ploeg, Ans T.

“…Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe…”
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Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up by Ismailova, Gamida, Wagenmakers, Margreet A. E. M, Brusse, Esther, van der Ploeg, Ans T, Favejee, Marein M, van der Beek, Nadine A. M. E, van den Berg, Linda E. M

“…In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6-70.5 years) improved endurance,…”
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Hearing in adults with Pompe disease by van der Beek, Nadine A. M. E., Verschuure, Hans, Reuser, Arnold J. J., van der Ploeg, Ans T., van Doorn, Pieter A., Poublon, René M. L.

“…Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid…”
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Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study by Yuan, Meng, Andrinopoulou, Eleni-Rosalina, Kruijshaar, Michelle E, Lika, Aglina, Harlaar, Laurike, van der Ploeg, Ans T, Rizopoulos, Dimitris, van der Beek, Nadine A. M. E

“…Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported…”
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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease by van Kooten, Harmke A, Ditters, Imke A M, Hoogeveen-Westerveld, Marianne, Jacobs, Edwin H, van den Hout, Johanna M P, van Doorn, Pieter A, Pijnappel, W W M Pim, van der Ploeg, Ans T, van der Beek, Nadine A M E

“…Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA, alglucosidase alfa) has improved survival, motor outcomes, daily life…”
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Is the brain involved in patients with late‐onset Pompe disease? by Dorpel, Jan J. A., Vlugt, Willemijn M. C., Dremmen, Marjolein H. G., Muetzel, Ryan, Berg, Esther, Hest, Roos, Kriek, Joni, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Hout, Johanna M. P., Beek, Nadine A. M. E.

“…Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late‐onset Pompe disease, with…”
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Chest MRI to diagnose early diaphragmatic weakness in Pompe disease by Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, Pittaro, Alice, van Kooten, Harmke A, van der Beek, Nadine A M E, Brusse, Esther, Wielopolski, Piotr A, de Bruijne, Marleen, van der Ploeg, Ans T, Tiddens, Harm A W M, van Doorn, Pieter A

“…In Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective…”
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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease by Kuperus, Esther, van der Meijden, Jan C, In 't Groen, Stijn L M, Kroos, Marian A, Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T, Pijnappel, W W M Pim

“…The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in…”
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