Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

por van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.
Publicado 2011

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

por van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.
Publicado 2011

Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles

por Andressoo, Jaan-Olle, Jans, Judith, de Wit, Jan, Coin, Frederic, Hoogstraten, Deborah, van de Ven, Marieke, Toussaint, Wendy, Huijmans, Jan, Thio, H. Bing, van Leeuwen, Wibeke J, de Boer, Jan, Egly, Jean-Marc, Hoeijmakers, Jan H. J, van der Horst, Gijsbertus T. J, Mitchell, James R
Publicado 2006