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2024
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 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 Overuse of EEG and ECG in children with breath-holding spells and its implication for the management of the spells
Hellström Schmidt, Sanna ^LU ; Smedenmark, Julia ; Jeremiasen, Ida ^LU ; Sigurdsson, Björn ^LU ; Eklund, Erik A ^LU and Pronk, Cornelis Jan ^LU (2024) In Acta Pædiatrica 113(2). p.317-326
- 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 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 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
2023
Mark Childhood tuberous sclerosis complex in southern Sweden: A paradigm shift in diagnosis and treatment.
Pearson, Kevin ^LU ; Björk Werner, Josefin ^LU ; Lundgren, Johan ^LU ; Gränse, Lotta ^LU ; Karlsson, Emma ; Källen, Kristina ^LU ; Eklund, Erik A ^LU and Bekassy, Zivile ^LU (2023) In BMC Pediatrics 23(1).
- Contribution to journal › Article
Mark The Swedish COG6-CDG experience and a comprehensive literature review
Xia, Zhi Jie ; Ng, Bobby G. ; Jennions, Elizabeth ; Blomqvist, Maria ; Sandqvist Wiklund, Anneli ; Hedberg-Oldfors, Carola ^LU ; Gonzalez, Carlos Rodriguez ; Freeze, Hudson H. ; Ygberg, Sofia and Eklund, Erik A. ^LU (2023) In JIMD Reports 64(1). p.79-89
- Contribution to journal › Article
Mark Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G.F. ; Eklund, E.A. ^LU and Wortmann, S. (2023) In Genetics in Medicine 25(6).
- Contribution to journal › Article

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