❭ Research by medical division ❭ Paediatric & Adolescent Medicine ❭ Newborn screening and metabolism [Stray-Pedersen] ❭ Ongoing studies ❭
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Home Paediatric & Adolescent Medicine Newborn screening and metabolism [Stray-Pedersen]

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  • Ongoing studies
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Recent publications

Antunes FTT, Gandini MA, Garcia-Caballero A, Huang S, Ali MY, Gambeta E, Souza IA, Harding EK, Ferron L, Stray-Pedersen A, Gadotti VM, Zamponi GW (2025)
A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain
J Exp Med, 222 (8)
DOI 10.1084/jem.20241877, PubMed 40377597

Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L et al. (2025)
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
Neurology, 105 (2), e213817
DOI 10.1212/WNL.0000000000213817, PubMed 40577679

Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE (2025)
The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis
Clin Rev Allergy Immunol, 68 (1), 64
DOI 10.1007/s12016-025-09070-1, PubMed 40668456

More publications

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