Multiple sulfatase deficiency: A case series of four children

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dc.authoridAltunbasak, Sakir/0000-0002-0779-3272
dc.authoridOnenli Mungan, Halise Neslihan/0000-0001-7862-3038
dc.authoridPepe, Stefano/0000-0003-0057-8411
dc.authorwosidAltunbasak, Sakir/K-6271-2018
dc.authorwosidİncecik, FARUK/E-5950-2018
dc.authorwosidOnenli Mungan, Halise Neslihan/G-3633-2018
dc.contributor.authorIncecik, Faruk
dc.contributor.authorOzbek, Mehmet N.
dc.contributor.authorGungor, Serdal
dc.contributor.authorPepe, Stefano
dc.contributor.authorHerguner, Ozlem M.
dc.contributor.authorMungan, Neslihan Onenli
dc.contributor.authorGungor, Sabiha
dc.date.accessioned2024-08-04T20:37:55Z
dc.date.available2024-08-04T20:37:55Z
dc.date.issued2013
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMultiple 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 essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p. G247R amino acid substitution in the SUMF1 protein.en_US
dc.identifier.doi10.4103/0972-2327.120449
dc.identifier.endpage722en_US
dc.identifier.issn0972-2327
dc.identifier.issn1998-3549
dc.identifier.issue4en_US
dc.identifier.pmid24339620en_US
dc.identifier.scopus2-s2.0-84887602772en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage720en_US
dc.identifier.urihttps://doi.org/10.4103/0972-2327.120449
dc.identifier.urihttps://hdl.handle.net/11616/96274
dc.identifier.volume16en_US
dc.identifier.wosWOS:000326976700060en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedknow Publications & Media Pvt Ltden_US
dc.relation.ispartofAnnals of Indian Academy of Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChilden_US
dc.subjectmultiple sulfatase deficiencyen_US
dc.subjectsulfatase-modifying factor 1 geneen_US
dc.titleMultiple sulfatase deficiency: A case series of four childrenen_US
dc.typeArticleen_US

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