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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M. Pelet A, et al. Among authors: joensen f. Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237. Hum Mol Genet. 2019. PMID: 31600779
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: joensen f. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
Rafiq NK, Lachmann H, Joensen F, Herlin T, Brogan PA. Rafiq NK, et al. Among authors: joensen f. Case Rep Pediatr. 2018 Aug 26;2018:3514645. doi: 10.1155/2018/3514645. eCollection 2018. Case Rep Pediatr. 2018. PMID: 30225156 Free PMC article.
Perinatal deaths in the Faroe Islands during 1986-95.
Joensen F, Olsen SF, Holm T, Joensen HD. Joensen F, et al. Among authors: joensen hd. Acta Obstet Gynecol Scand. 2000 Oct;79(10):834-8. Acta Obstet Gynecol Scand. 2000. PMID: 11304965
21 results