Publication
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, Nathalie Bednarek, Catherine Caillaud, Yves Chaix, Marie-Ange Delrue, Anne Dusser, Roseline Froissart, Roselyne Garnotel, Nathalie Guffon, André Megarbane, Hélène Ogier de Baulny, Jean-Michel Pédespan, Samia Pichard, Vassili Valayannopoulos, Alain Verloes, Thierry Levade
Orphanet Journal of Rare Diseases, March 2015, Springer Science + Business Media
DOI: 10.1186/s13023-015-0244-7