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132 results

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G

Therapeutic advances in rare disease, 2026

doi: 10.1177/26330040261425686

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien YH, Han M, Heuterman J, Sparks S, Glen C, Daba N

Frontiers in immunology, 2025

doi: 10.3389/fimmu.2025.1690312

A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.

Faraguna MC, Crescitelli V, Bonanomi S, Kullmann GA, Boffi ML, Pretese R, Risca G, Tedesco LM, Pozzi K, Serafini M, van den Hout JM, van der Ploeg AT, Balduzzi AC, Gasperini S

Current opinion in immunology, 2026 Jan 22

doi: S0952-7915(26)00002-6

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Meijer NWF, Huidekoper HH, Koop K, Fuchs SA, Heiner Fokkema MR, Lubout CMA, Haijer-Schreuder AB, Visser WF, Verschoof-Puite RK, Dekkers E, Bosch AM, Maase RE, de Sain-van der Velden MGM

International journal of neonatal screening, 2025 Dec 24

doi: 10.3390/ijns12010001

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G

Journal of inherited metabolic disease, 2026 Jan

doi: 10.1002/jimd.70136

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, Audi J, Botha J, Whiteman DAH, Giugliani R, Muenzer J

Molecular genetics and metabolism, 2026 Jan 12

doi: S1096-7192(26)00017-X

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