Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

by Rasmussen, Jan, Lund, Allan M., Risom, Lotte, Wibrand, Flemming, Gislason, Hannes, Nielsen, Olav W., Køber, Lars, Duno, Morten
Published 2014

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

by Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Published 2011