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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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Bibliographische Detailangaben
Hauptverfasser: Incecik, Faruk, Ozbek, Mehmet N., Gungor, Serdal, Pepe, Stefano, Herguner, Ozlem M., Mungan, Neslihan Onenli, Gungor, Sabiha, Altunbasak, Sakir
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3841641/
https://ncbi.nlm.nih.gov/pubmed/24339620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.120449
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