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151 results

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

Muenzer J, Burton BK, Harmatz P, Rajan DS, Jones SA, van den Hout JMP, Mitchell JJ, Bhalla A, Engmann NJ, Zubizarreta I, Dong W, Model F, Watts RJ, Troyer MD, Chin PS, Ho C

The New England journal of medicine, 2026 Jan 01

doi: 10.1056/NEJMoa2508681

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel WWMP, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2025 Dec 15

doi: 10.1007/s40259-025-00760-y

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel PWWM, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2025 Nov 24

doi: 10.1007/s40259-025-00757-7

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Hulshof EM, Lantinga HP, Alkemade G, Bosch AM, Brands MM, Vliet DD, Haijer-Schreuder AB, Hoytema van Konijnenburg EMM, Janssen MCH, van der Klauw MM, Langeveld M, Lubout CMA, van Ockenburg SL, Oussoren E, Panis B, Sjouke B, de Vries M, Wagenmakers MAEM, Wijnen M, Sival DA, Tijssen MAJ, de Koning TJ, Koens LH

Journal of inherited metabolic disease, 2025 Nov

doi: 10.1002/jimd.70105

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T,

Journal of inherited metabolic disease, 2025 Nov

doi: 10.1002/jimd.70095

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Smits DJ, Ferraro F, Drost M, van der Linde HC, de Graaf BM, van Bever Y, Brooks AS, Bardina L, Brüggenwirth HT, Debuy C, Donker Kaat L, van Dijk BT, van Engelen N, Geeven G, van de Graaf R, van Haaften-Visser DY, van Hasselt PM, Heijsman D, Hendriks YMC, Hitti-Malin RJ, Hoefsloot LH, Huijbregts G, IJspeert H, Lamballais S, Mijalkovic J, Mol MO, Nawawi D, Nederpelt N, Nibbeling EAR, Te Rijdt W, Schot R, van Slegtenhorst M, Sleutels F, Ulenkate ELM, Van Veghel-Plandsoen M, Verhagen JMA, Vos D, Wauters E, Wilke M, Sylva M, Barakat TS, van Ham TJ, Kleefstra T, Rots D, Verhoeven VJM

European journal of human genetics : EJHG, 2025 Oct 20

doi: 10.1038/s41431-025-01959-x

Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla C NMR spectroscopy.

Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J

Journal of neurology, neurosurgery, and psychiatry, 2025 Oct 15

doi: 10.1136/jnnp-2025-336628

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.

Burton BK, Fertek D, Chin PS, Ho C, Giugliani R, van den Hout JMP, Magner M, Ezgü F, AlSayed M, Muenzer J, Okuyama T, Jones SA

Molecular genetics and metabolism, 2025 Sep 29

doi: S1096-7192(25)00239-2

Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.

Catalano F, Stevic D, Zundo G, Huizer TF, Dammou Z, Vlaar EC, Katsavelis D, van den Bosch JC, van den Hout HJMP, Oussoren E, van der Ploeg AT, Ruijter GJG, Schaaf G, Pijnappel WWMP

EMBO molecular medicine, 2025 Sep 29

doi: 10.1038/s44321-025-00314-3

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.

Aukes R, Albersen M, Boelen A, Kluijtmans LAJ, Visser WF, de Vries MC, Bosch AM,

Journal of inherited metabolic disease, 2025 Sep

doi: 10.1002/jimd.70088

Elucidating the role of human skeletal muscles in the pathogenesis of enterovirus D68 infection.

Laksono BM, Bergsma AJ, Iuliano A, Veldhoen DY, van Nieuwkoop S, Boter M, Leijten L, Bauer L, Oude Munnink BB, Pijnappel WP, van Riel D

Life science alliance, 2025 Nov

doi: 10.26508/lsa.202503372

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.

Kishnani PS, Díaz-Manera J, Illarioshkin S, van der Ploeg AT, Clemens PR, Day JW, Toscano A, Kushlaf H, Ladha S, Attarian S, Carvalho G, Kostera-Pruszczyk A, Erdem-Özdamar S, Goker-Alpan O, Mozaffar T, Straub V, Roberts M, Haack KA, Huynh-Ba O, Tammireddy S, Periquet M, Thibault N, Zhou T, Dimachkie MM, Schoser B,

Journal of neurology, 2025 Aug 16

doi: 10.1007/s00415-025-13266-y