Seventeen novel mutations that cause profound biotinidase deficiency

B. Wolf, K. Jensen, G. Hüner, M. Demirkol, T. Baykal, P. Divry, M. O. Rolland, C. Perez-Cerdá, M. Ugarte, R. Straussberg, L. Basel-Vanagaite, E. R. Baumgartner, T. Suormala, S. Scholl, A. M. Das, S. Schweitzer, E. Pronicka, J. Sykut-Cegielska

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