Cargando...
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...
Gardado en:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
|
| Assuntos: | |
| Acceso en liña: | 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 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|