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207 results

Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.

van der Beek NAME, Theunissen MTM, van den Hout JMP, Pijnappel WWM, Schoser B, Laforêt P, Parenti G, van Doorn PA, van der Ploeg AT

The Lancet. Neurology, 2025 Mar

doi: S1474-4422(24)00518-0

Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T

Journal of neurology, 2025 Feb 17

doi: 10.1007/s00415-025-12899-3

Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al.

Kruijshaar ME, House T, Schoser B, Laforêt P, Theunissen MTM, Wenninger S, Hundsberger T, Diaz-Manera J, van der Ploeg AT, van der Beek NAME

Orphanet journal of rare diseases, 2025 Feb 14

doi: 10.1186/s13023-025-03552-3

Health-Related Quality of Life and Fatigue in Children with Pompe Disease.

Scheffers LE, Dulfer K, Lanser C, Mackenbach M, van der Ploeg AT, van den Hout JMP, van den Berg LE

Journal of pediatrics. Clinical practice, 2024 Dec

doi: 10.1016/j.jpedcp.2024.200116

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

Tchan M, Lehman A, van Dussen L, Langendonk JG, Janssen MCH, Langeveld M, Murphy E, Ryder B, Glamuzina E, Merkel M, Sechi A, Arnoux JB, Mochel F, Alkemade G, Maillot F, Kaphan E, Mazodier K, Thomas Q, Leguy-Seguin V, Marelli C

Journal of inherited metabolic disease, 2025 Mar

doi: 10.1002/jimd.70005

Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Byrne BJ, Parenti G, Schoser B, van der Ploeg AT, Do H, Fox B, Goldman M, Johnson FK, Kang J, Mehta N, Mondick J, Sheikh MO, Sitaraman Das S, Tuske S, Brudvig J, Weimer JM, Mozaffar T

Frontiers in neurology, 2024

doi: 10.3389/fneur.2024.1540452

Corrigendum to "Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials" [Molecular Genetics and Metabolism, 143 (2024) 108608].

Díaz-Manera J, Hughes D, Erdem-Özdamar S, Tard C, Béhin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT

Molecular genetics and metabolism, 2025 Jan 08

doi: S1096-7192(24)00890-4

Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.

Díaz-Manera J, Hughes D, Erdem-Özdamar S, Tard C, Béhin A, Bouhour F, Davison J, Hahn SH, Haack KA, Huynh-Ba O, Periquet M, Tammireddy S, Thibault N, Zhou T, van der Ploeg AT

Molecular genetics and metabolism, 2024 Nov 08

doi: S1096-7192(24)00492-X

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.

Byrne BJ, Parenti G, Schoser B, van der Ploeg AT, Do H, Fox B, Goldman M, Johnson FK, Kang J, Mehta N, Mondick J, Sheikh MO, Sitaraman Das S, Tuske S, Brudvig J, Weimer JM, Mozaffar T

Frontiers in neurology, 2024

doi: 10.3389/fneur.2024.1451512

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT,

Orphanet journal of rare diseases, 2024 Nov 01

doi: 10.1186/s13023-024-03373-w

Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.

Najac C, van der Beek NAME, Boer VO, van Doorn PA, van der Ploeg AT, Ronen I, Kan HE, van den Hout JMP

Brain communications, 2024

doi: 10.1093/braincomms/fcae303

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME,

European journal of neurology, 2024 Aug 28

doi: 10.1111/ene.16397