Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency

Por Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P, Vining, Eileen, Horská, Alena, Engelke, Udo, Wevers, Ron A., Maegawa, Gustavo H.B.
Publicado no J Magn Reson Imaging (2012)

International Paediatric Mitochondrial Disease Scale

Por Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.
Publicado no J Inherit Metab Dis (2016)