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Outcome of tyrosinaemia type III.
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV. Ellaway CJ, et al. Among authors: holme e. J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064. J Inherit Metab Dis. 2001. PMID: 11916315
NTBC as palliative treatment in chronic tyrosinaemia type I.
Ros J, Vilaseca MA, Lambruschini N, Mas A, Lindstedt S, Holme E. Ros J, et al. Among authors: holme e. J Inherit Metab Dis. 1999 Jun;22(5):665-6. doi: 10.1023/a:1005594416973. J Inherit Metab Dis. 1999. PMID: 10399099 No abstract available.
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: holme e. 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
157 results