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112 results

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Buijs MJN, Balfoort BM, Brands MM, Ten Asbroek ALMA, Boon CJF, Diederen RMH, Timmer C, Wagenmakers MAEM, Waterham HR, Wanders RJA, Houtkooper RH, van Karnebeek CD, Bergen AA

Acta ophthalmologica, 2025 Apr 07

doi: 10.1111/aos.17498

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

Sodium benzoate for the treatment of hepatic encephalopathy in humans and animals: a systematic review and meta-analysis.

van Zoest D, Gal B, Agha AH, den Hoed CM, Langendonk JG, Wagenmakers MAEM, Peltenburg C

European journal of gastroenterology & hepatology, 2024 Dec 19

doi: 10.1097/MEG.0000000000002911

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

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P, , van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM

Journal of inherited metabolic disease, 2025 Jan

doi: 10.1002/jimd.12842

Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM,

Journal of inherited metabolic disease, 2024 Dec 03

doi: 10.1002/jimd.12815

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