Article
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Orphanet journal of rare diseases - 15 Mar 2015
Sabourdy Frédérique, Mourey Lionel, Le Trionnaire Emmanuelle, Bednarek Nathalie, Caillaud Catherine, Chaix Yves, Delrue Marie-Ange, Dusser Anne, Froissart Roseline, Garnotel Roselyne, Guffon Nathalie, Megarbane André, Ogier de Baulny Hélène, Pédespan Jean-Michel, Pichard Samia, Valayannopoulos Vassili, Verloes Alain, Levade Thierry
Abstract excerpt
BACKGROUND: Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis. This study aimed to provide improved knowledge of the disease, through complete clinical, biochemical, and molecular descriptions of a cohort of unrelated patients. The main objective was to identify prognostic markers, both...
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