Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

por de Bie, P, Muller, P, Wijmenga, C, Klomp, L W J
Publicado 2007

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

por Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., de Koning, T. J.
Publicado 2010