Multiple sulfatase deficiency: A case series of four children

Multiple sulfatase deficiency: A case series of four children

Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is ess...

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Bibliographic Details
Main Authors: Faruk Incecik, Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2013-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Child
multiple sulfatase deficiency
sulfatase-modifying factor 1 gene
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=720;epage=722;aulast=Incecik

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=720;epage=722;aulast=Incecik

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