Search Results - "Beek, Nadine A.M.E."

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity by Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current…”
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Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study by Kuperus, Esther, Kruijshaar, Michelle E, Wens, Stephan C.A, de Vries, Juna M, Favejee, Marein M, van der Meijden, Jan C, Rizopoulos, Dimitris, Brusse, Esther, van Doorn, Pieter A, van der Ploeg, Ans T, van der Beek, Nadine A.M.E

“…OBJECTIVE:To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are…”
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Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia by van der Beek, Nadine A M E, van Tienen, Carla, de Haan, Jubi E, Roelfsema, Jeroen, Wismans, Pieter J, van Genderen, Perry J J, Tanghe, Herve L, Verdijk, Rob M, Titulaer, Maarten J, van Hellemond, Jaap J

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience by Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz‐Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl‐Eugen, Mongini, Tiziana, Muller‐Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, Beek, Nadine A.M.E, Wenninger, Stephan

“…Background and purpose Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform…”
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Increased aortic stiffness in glycogenosis type 2 (Pompe's disease) by Nemes, Attila, Soliman, Osama I.I, Geleijnse, Marcel L, Anwar, Ashraf M, van der Beek, Nadine A.M.E, van Doorn, Pieter A, Gavallér, Henriette, Csajbók, Éva, ten Cate, Folkert J

“…Abstract Background Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, is an autosomal recessive disorder in which…”
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Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease by Harlaar, Laurike, Hogrel, Jean-Yves, Perniconi, Barbara, Kruijshaar, Michelle E, Rizopoulos, Dimitris, Taouagh, Nadjib, Canal, Aurélie, Brusse, Esther, van Doorn, Pieter A, van der Ploeg, Ans T, Laforêt, Pascal, van der Beek, Nadine A M E

“…To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment…”
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Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease: A prospective study by Ditters, Imke A.M., van der Ploeg, Ans T., van der Beek, Nadine A.M.E., van den Hout, Hannerieke (.J).M.P., Huidekoper, Hidde H.

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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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Safety of home-based infusion of alglucosidase alfa in late onset Pompe disease: 13 years of experience from the Erasmus MC University Medical Center by Ditters, Imke A.M., van Kooten, Harmke, van der Beek, Nadine A.M.E., van den Hout, Hannerieke, Huidekoper, Hidde H., van der Ploeg, Ans T.

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Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease by Lika, Aglina, Andrinopoulou, Eleni-Rosalina, van der Beek, Nadine A M E, Rizopoulos, Dimitris, van der Ploeg, Ans T, Kruijshaar, Michelle E

“…Pompe disease is a rare, inheritable, progressive metabolic myopathy. This study aimed to estimate the minimal clinically important difference (MCID) for an…”
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Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease by Mackenbach, M. J., Willemse, E. A.J., van den Dorpel, J. J.A., van der Beek, N. A.M.E., Díaz-Manera, Jordi, Rizopoulos, D., Teunissen, Charlotte, van der Ploeg, Ans T, van den Hout, J. M.P.

“…Enzyme replacement therapy (ERT) has substantially improved the outcome of classic infantile Pompe disease, an inheritable muscle disease previously fatal at…”
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The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease by Theunissen, Maudy T. M., van den Elsen, Renee M., House, Tiffany L., Crittenden, Brad, van Doorn, Pieter A., van der Ploeg, Ans T., Kruijshaar, Michelle E., van der Beek, Nadine A. M. E.

“…Background Patients with Pompe disease, a rare metabolic myopathy, were thought to be at increased risk of severe COVID-19 disease during the pandemic. In…”
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Diffusion tensor imaging of the brain in Pompe disease by van den Dorpel, Jan J. A., Dremmen, Marjolein H. G., van der Beek, Nadine A. M. E., Rizopoulos, Dimitris, van Doorn, Pieter A., van der Ploeg, Ans T., Muetzel, Ryan L., van den Hout, Johanna M. P.

“…Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients…”
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MRI changes in diaphragmatic motion and curvature in Pompe disease over time by Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, van Kooten, Harmke A., van der Beek, Nadine A. M. E., Brusse, Esther, de Bruijne, Marleen, Tiddens, Harm A. W. M., van der Ploeg, Ans T., van Doorn, Pieter A.

“…Objectives To evaluate changes in diaphragmatic function in Pompe disease using MRI over time, both during natural disease course and during treatment with…”
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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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Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: A multicentre observational follow-up study of the European Pompe Consortium by Ditters, Imke A.M., Huidekoper, Hidde H., Kruijshaar, Michelle E., Rizopoulos, Dimitris, Hahn, Andreas, Mongini, Tiziana E., Labarthe, François, Tardieu, Marine, Chabrol, Brigitte, Brassier, Anaïs, Parini, Rossella, Parenti, Giancarlo, van der Beek, Nadine A.M.E., van der Ploeg, Ans T., van den Hout, Hannerieke

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience by Niño, Monica Y, Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J, Broeders, Mike, van der Beek, Nadine A M E, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Verheijen, Frans W, Pijnappel, W W M Pim

“…Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or…”
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