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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. by Grünert, S, Stucki, M, Morscher, R, Suormala, T, Bürer, C, Burda, P, Christensen, E, Ficicioglu, C, Herwig, J, Kölker, S, Möslinger, D, Pasquini, E, Santer, R, Schwab, K, Wilcken, B, Fowler, B, Yue, W, Baumgartner, MR
Published 2012Journal article -
2
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome by Manzoni, E, Carli, S, Gaignard, P, Schlieben, LD, Hirano, M, Ronchi, D, Gonzales, E, Shimura, M, Murayama, K, Okazaki, Y, Barić, I, Petkovic Ramadza, D, Karall, D, Mayr, J, Martinelli, D, La Morgia, C, Primiano, G, Santer, R, Servidei, S, Bris, C, Cano, A, Furlan, F, Gasperini, S, Laborde, N, Nesbitt, V
Published 2024Journal article