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2025
Mark The effect of elexacaftor-tezacaftor-ivacaftor on liver stiffness in children with cystic fibrosis
Diemer, Stefanie ^LU ; Elidottir, Helga ^LU ; Eklund, Erik ^LU ; Påhlman, Lisa ^LU and Rönne Hansen, Christine ^LU (2025) In Journal of Pediatric Gastroenterology and Nutrition 81(1). p.74-81
- Contribution to journal › Article
Mark Gene therapy in advanced metachromatic leukodystrophy : tempering expectations
Schoenmakers, Daphne H. ; Beerepoot, Shanice ; Adang, Laura A. ; Asbreuk, Marije A.B.C. ; Bergner, Caroline G. ; Bley, Annette E. ; Boelens, Jaap Jan ; Calbi, Valeria ; Darling, Alejandra and Eklund, Erik ^LU , et al. (2025) In Protein and Cell 16(1). p.12-15
- Contribution to journal › Debate/Note/Editorial
Mark Key lessons from the first international treatment eligibility committee : the case of metachromatic leukodystrophy
Schoenmakers, Daphne H ; Asbreuk, Marije A B C ; Martin, Tamara ; Datema, Mareen ; Beerepoot, Shanice ; Inbar-Feigenberg, Michal ; Groeschel, Samuel ; Kehrer, Christiane ; Øberg, Andreas and Sevin, Caroline , et al. (2025) In European Journal of Paediatric Neurology 57. p.72-81
- Contribution to journal › Article
Mark Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) : An emerging mitochondrial disorder
Ng, Bobby G. ; Eklund, Erik A. ^LU ; Rosenfeld, Jill A. ; Elias, Abdallah F. ; Abu-El-Haija, Aya ; Bris, Celine ; Barth, Magalie ; Chae, Jong Hee ; Choi, Murim and Dubbs, Holly A. , et al. (2025) In Genetics in Medicine Open 3.
- Contribution to journal › Article
Mark Validating the PECARN rule to identify febrile infants at low risk of serious bacterial infections : an international validation study
Orfanos, Ioannis ^LU ; Vrijlandt, Sanne ; van der Walle, Eline ; Tan, Chantal D ; Nieboer, Daan ; Alfvén, Tobias ^LU ; Sotoca Fernandez, Jorge ^LU ; Elliver, Matilda ^LU ; Elfving, Kristina ^LU and Martinón-Torres, Federico , et al. (2025) In Archives of Disease in Childhood
- Contribution to journal › Article
2024
Mark Coagulation abnormalities and vascular complications are common in PGM1-CDG
Radenkovic, Silvia ; Bleukx, Sofie ; Engelhardt, Nicole ; Eklund, Erik ^LU ; Mercimek-Andrews, Saadet ; Edmondson, Andrew C. and Morava, Eva (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article
Mark Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan ; Mallack, Eric ; Ahrens-Nicklas, Rebecca ; Bernat, John A. ; Bley, Annette ; Burton, Barbara ; Darling, Alejandra and Eichler, Florian , et al. (2024) In Cytotherapy 26(7). p.739-748
- Contribution to journal › Article
Mark Cost Effectiveness of Adding Fenfluramine to Standard of Care for Patients with Dravet Syndrome in Sweden
Malmberg, Chiara ; Värendh, Magnus ; Berling, Patric ; Charokopou, Mata and Eklund, Erik ^LU (2024) In Applied Health Economics and Health Policy 22(4). p.543-554
- Contribution to journal › Article
Mark Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia
Quiroz, Vicente ; Planas-Serra, Laura ; Sveden, Abigail ; Tam, Amy ; Kim, Hyo Min ; Zubair, Umar ; Resch, Dario ; Saffari, Afshin ; Danzi, Matt C. and Züchner, Stephan , et al. (2024) In Journal of Clinical Investigation 134(17).
- Contribution to journal › Letter
Mark Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina ; Eklund, E.A. ^LU and Morava, E. (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article

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