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Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?

✍ Scribed by Fiddler, M. B.; Vine, D.; Shapira, E.; Nadler, H. L.

Book ID
109716569
Publisher
Nature Publishing Group
Year
1979
Tongue
English
Weight
350 KB
Volume
282
Category
Article
ISSN
0028-0836

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Multiple sulfatase deficiency is due to
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene
✍ Ida Annunziata; Valentina Bouchè; Alessia Lombardi; Carmine Settembre; Andrea Ba 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 325 KB

Sulfatases catalyze the hydrolysis of sulfate ester bonds from a wide variety of substrates and are implicated in several human inherited diseases. Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disorder characterized by the simultaneous deficiency of all known sulfatases. MSD is