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2024
Mark Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers
Westerlund, Emil ^LU ; Marelsson, Sigurður E. ^LU ; Karlsson, Michael ; Sjövall, Fredrik ^LU ; Chamkha, Imen ^LU ; Åsander Frostner, Eleonor ^LU ; Lundgren, Johan ^LU ; Fellman, Vineta ^LU ; Eklund, Erik A. ^LU and Steding-Ehrenborg, Katarina ^LU , et al. (2024) In Heliyon 10(5).
- Contribution to journal › Article
Mark Clinical characteristics of children with Borrelia-related peripheral facial palsy and utility of cerebrospinal fluid testing
Orfanos, Ioannis ^LU ; Chytilova, Veronika ^LU and Eklund, Erik ^LU (2024) In Acta Paediatrica, International Journal of Paediatrics 113(7). p.1630-1636
- Contribution to journal › Article
Mark Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A. ; Beck-Woedl, Stefanie ; Bergner, Caroline ; Bernard, Geneviève ; Bley, Annette ; Boyer, Audrey ; Calbi, Valeria and Dekker, Hanka , et al. (2024) In European Journal of Paediatric Neurology 49. p.141-154
- Contribution to journal › Article
Mark Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
Savvidou, Antri ; Sofou, Kalliopi ; Eklund, Erik A. ^LU ; Aronsson, Johan and Darin, Niklas (2024) In European Journal of Neurology 31(7).
- 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 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 ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
Shah, Rameen ; Eklund, Erik A. ^LU ; Radenkovic, Silvia ; Sadek, Mustafa ; Shammas, Ibrahim ; Verberkmoes, Sanne ; Ng, Bobby G. ; Freeze, Hudson H. ; Edmondson, Andrew C. and He, Miao , et al. (2024) In Molecular Genetics and Metabolism 142(2).
- Contribution to journal › Scientific review
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
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 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

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