Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Multiple sulfatase deficiency (MSD) is an ultra‐rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine‐generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase defi...

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Detalles Bibliográficos
Autores principales: Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693296/
https://www.ncbi.nlm.nih.gov/pubmed/32749716
http://dx.doi.org/10.1002/jimd.12298

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693296/
https://www.ncbi.nlm.nih.gov/pubmed/32749716
http://dx.doi.org/10.1002/jimd.12298

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