Φορτώνει......
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Netherlands
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3173643/ https://ncbi.nlm.nih.gov/pubmed/21617927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9351-3 |
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