Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLGI) mutations
DE VRIES, Maaike C, RODENBURG, Richard J, SMEITINK, Jan A. M, MORAVA, Eva, VAN KAAUWEN, Edwin P. M, TER LAAK, Henk, MULLAART, Reinier A, SNOECK, Irina N, VAN HASSELT, Peter M, HARDING, Peter, VAN DEN HEUVEL, Lambert P. W
Published in European journal of pediatrics (01.03.2007)
Published in European journal of pediatrics (01.03.2007)
Get full text
Journal Article
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
Hoefs, Saskia J.G., Skjeldal, Ola H., Rodenburg, Richard J., Nedregaard, Bård, van Kaauwen, Edwin P.M., Spiekerkötter, Ute, von Kleist-Retzow, Jürgen-Christoph, Smeitink, Jan A.M., Nijtmans, Leo G., van den Heuvel, Lambert P.
Published in Molecular genetics and metabolism (01.07.2010)
Published in Molecular genetics and metabolism (01.07.2010)
Get full text
Journal Article