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2024
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
2023
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
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
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
2019
Mark TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Jennions, Elizabeth ; Hedberg-Oldfors, Carola ; Berglund, Anna Karin ; Kollberg, Gittan ; Törnhage, Carl Johan ; Eklund, Erik A. ^LU ; Oldfors, Anders ; Verloo, Patrick ; Vanlander, Arnaud V. and De Meirleir, Linda , et al. (2019) In Journal of Inherited Metabolic Disease 42(5). p.898-908
- Contribution to journal › Article
2012
Mark Neurology of inherited glycosylation disorders
Freeze, Hudson H. ; Eklund, Erik ^LU ; Ng, Bobby G. and Patterson, Marc C. (2012) In Lancet Neurology 11(5). p.453-466
- Contribution to journal › Scientific review
2005
Mark Essentials of glycosylation
Eklund, Erik A ^LU and Freeze, Hudson H (2005) In Seminars in pediatric neurology 12(3). p.43-134
- Contribution to journal › Scientific review

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