Complex care of individuals with Multiple Sulfatase Deficiency: clinical cases and consensus statement

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insuffi...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti-Pierri, Nicola, De Castro, Mauricio, Dierks, Thomas, Eichler, Florian, Ficicioglu, Can, Finglas, Alan, Gaertner, Jutta, Kirmse, Brian, Klepper, Joerg, Lee, Marcus, Olsen, Amber, Parenti, Giancarlo, Vossough, Arastoo, Vanderver, Adeline, Adang, Laura A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856873/
https://ncbi.nlm.nih.gov/pubmed/29397290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.01.005
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