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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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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Medknow Publications & Media Pvt Ltd
2013
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| 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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