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2023
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
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 Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
Eklund, Erik A. ^LU ; Miller, Bradley S. and Boucher, Alexander A. (2023) In Molecular Genetics and Metabolism 138(4).
- Contribution to journal › Article
Mark The evolution of epilepsy surgery in tuberous sclerosis in Sweden: A national registry study
Pearson, Kevin ^LU ; Eklund, Erik ^LU ; Rask, Olof ^LU ; Rosén, Ingmar ^LU ; Sjunnesson, Håkan ^LU and COMPAGNO STRANDBERG, MARIA ^LU (2023) In Seizure 112. p.54-61
- Contribution to journal › Article
2022
Mark De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena ; Edani, Ban H ; Martinelli, Simone ; Hansikova, Hana ; Eklund, Erik A ^LU ; Caputi, Caterina ; Masuelli, Laura ; Corsten-Janssen, Nicole ; Srour, Myriam and Oegema, Renske , et al. (2022) In Brain : a journal of neurology 145(1). p.208-223
- Contribution to journal › Article
Mark Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
Savvidou, Antri ; Ivarsson, Liz ; Naess, Karin ; Eklund, Erik A. ^LU ; Lundgren, Johan ^LU ; Dahlin, Maria ; Frithiof, Deborah ; Sofou, Kalliopi and Darin, Niklas (2022) In Journal of Inherited Metabolic Disease 45(2). p.248-263
- Contribution to journal › Article
Mark Management and Outcome of Febrile Infants ≤60 days, With Emphasis on Infants ≤21 Days Old, in Swedish Pediatric Emergency Departments
Orfanos, Ioannis ^LU ; Elfving, Kristina ^LU ; Sotoca Fernandez, Jorge ^LU ; Wennlund, Lovisa ; Weiber, Sofia ; Eklund, Erik A ^LU and Alfvén, Tobias ^LU (2022) In Pediatric Infectious Disease Journal 41(7). p.537-543
- Contribution to journal › Article
Mark Satisfaction and seizure outcomes of epilepsy surgery in tuberous sclerosis : A Swedish population-based long-term follow-up study
Pearsson, Kevin ^LU ; Compagno-Strandberg, Maria ^LU ; Eklund, Erik A ^LU ; Rask, Olof ^LU and Källén, Kristina ^LU (2022) In Seizure 103. p.39-45
- Contribution to journal › Article
Mark Breastfed Infants With Spells, Tremor, or Irritability : Rule Out Vitamin B12 Deficiency
Ljungblad, Ulf Wike ; Astrup, Henriette ; Mørkrid, Lars ; Hager, Helle Borgstrøm ; Lindberg, Morten ; Eklund, Erik A. ^LU ; Bjørke-Monsen, Anne Lise ; Rootwelt, Terje and Tangeraas, Trine (2022) In Pediatric Neurology 131. p.4-12
- Contribution to journal › Article
Mark 2D Shear Wave Elastography, a promising screening tool for Cystic Fibrosis liver disease, shows a correlation between vitamin D and liver stiffness
H, Elidottir ^LU ; CR, Hansen ^LU ; S, Diemer ^LU and EA, Eklund ^LU (2022) In Journal of Cystic Fibrosis 21(5). p.873-877
- Contribution to journal › Article

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