The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

por Nijmeijer, Stephanie C. M., van den Born, L. Ingeborg, Kievit, Anneke J. A., Stepien, Karolina M., Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A., Wagenmakers, Margreet A. E. M.
Publicado 2019

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

por Runhart, Esmee H., Dhooge, Patty, Meester‐Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong‐Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P. M., Hoyng, Carel B.
Publicado 2021