Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other sulfatase deficiencies. MSD is caused by impaired posttranslational activation of sulfatases through the formylglycine gener...

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Detalles Bibliográficos
Autores principales: Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279497/
https://www.ncbi.nlm.nih.gov/pubmed/32414121
http://dx.doi.org/10.3390/ijms21103448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279497/
https://www.ncbi.nlm.nih.gov/pubmed/32414121
http://dx.doi.org/10.3390/ijms21103448

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