Article

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency

2024-03-12

Abstract excerpt

<h4>ABSTRACT</h4> Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional deficiencies in all cellular sulfatases. The inability of sulfatases to break down their substrates leads to progressive and multi-systemic complications in patie...

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Literature Corpus work: 30a9f5b1-52c7-50c9-b259-d8a221edcea3
DOI: 10.1101/2024.03.08.584099

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