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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant
OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in...
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| Gepubliceerd in: | Mol Genet Metab |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5722675/ https://ncbi.nlm.nih.gov/pubmed/28951071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.09.008 |
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