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Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.
Savvidou A, Jennions E, Wikström S, Olsson-Engman M, Sofou K, Darin N. Savvidou A, et al. Among authors: olsson engman m. Eur J Paediatr Neurol. 2022 Jul;39:74-78. doi: 10.1016/j.ejpn.2022.06.007. Epub 2022 Jun 11. Eur J Paediatr Neurol. 2022. PMID: 35716526 Free article.
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Among authors: olsson engman m. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.