Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

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 mole...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375846/
https://www.ncbi.nlm.nih.gov/pubmed/25885655
http://dx.doi.org/10.1186/s13023-015-0244-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375846/
https://www.ncbi.nlm.nih.gov/pubmed/25885655
http://dx.doi.org/10.1186/s13023-015-0244-7

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