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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Detalles Bibliográficos
Autores principales: Incecik, Faruk, Ozbek, Mehmet N., Gungor, Serdal, Pepe, Stefano, Herguner, Ozlem M., Mungan, Neslihan Onenli, Gungor, Sabiha, Altunbasak, Sakir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841641/
https://www.ncbi.nlm.nih.gov/pubmed/24339620
http://dx.doi.org/10.4103/0972-2327.120449

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841641/
https://www.ncbi.nlm.nih.gov/pubmed/24339620
http://dx.doi.org/10.4103/0972-2327.120449

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