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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. Bross P, et al. Among authors: frederiksen jb. J Inherit Metab Dis. 2012 Sep;35(5):787-96. doi: 10.1007/s10545-011-9437-y. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231382
Antibodies to calnexin and mutated calreticulin are common in human sera.
Kyllesbech C, Trier N, Mughal F, Hansen P, Holmström M, El Fassi D, Hasselbalch H, Skov V, Kjær L, Andersen M, Ciplys E, Slibinskas R, Frederiksen J, Højrup P, Houen G. Kyllesbech C, et al. Curr Res Transl Med. 2023 Apr-Jun;71(2):103380. doi: 10.1016/j.retram.2023.103380. Epub 2023 Jan 28. Curr Res Transl Med. 2023. PMID: 36738659 Free article.