Kunskapsstöd, forskning och utveckling (FoUUI)
Lokala, regionala, nationella och internationella kunskapsstöd som expertteamet använder sig av samt vetenskapliga publikationer av expertteamet.
Lokala kunskapsstöd
Regionala kunskapsstöd
Nationella kunskapsstöd
Internationella kunskapsstöd
Vetenskapliga publikationer där expertteamet medverkat
- Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience
Mattias Krantz, 1 Emma Malm, 1 Niklas Darin, 2 , 3 Kalliopi Sofou, 2 , 3 Antri Savvidou, 2 , 3 Colin Reilly,corresponding author 2 , 3 and Petra Boström 1
- 1: Savvidou A, Ivarsson L, Naess K, Eklund EA, Lundgren J, Dahlin M, Frithiof D, Sofou K, Darin N. Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study. J Inherit Metab Dis. 2021 Dec 6. doi: 10.1002/jimd.12463. Epub ahead of print. PMID: 34873726.
- 5: Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. PMID: 33938619; PMCID: PMC8103096.
- 6: Sofou K, Kollberg G, Hedberg-Oldfors C, Oldfors A. The phenotypic variability and natural history of NARS2 associated disease. Eur J Paediatr Neurol. 2021 Mar;31:31-37. doi: 10.1016/j.ejpn.2021.01.012. Epub 2021 Feb 3. PMID: 33596490.
- 8: Ferreira CR, Rahman S, Keller M, Zschocke J; ICIMD Advisory Group. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021 Jan;44(1):164-177. doi: 10.1002/jimd.12348. PMID: 33340416.