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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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Bibliographische Detailangaben
Veröffentlicht in:Int J Mol Sci
Hauptverfasser: Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2020
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7279497/
https://ncbi.nlm.nih.gov/pubmed/32414121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21103448
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