Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients by Florkin B, Cuisset L, Acquaviva-Bourdain C, Rabier D, Neven B, Quartier P, Prieur AM

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein by Oerum, S, Roovers, M, Leichsenring, M, Acquaviva-Bourdain, C, Beermann, F, Gemperle-Britschgi, C, Fouilhoux, A, Korwitz-Reichelt, A, Bailey, H, Droogmans, L, Oppermann, U, Sass, J, Yue, W