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Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
INTRODUCTION: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 – 30th October 2020). MATERIAL AND...
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| Vydáno v: | Mol Genet Metab Rep |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7892981/ https://ncbi.nlm.nih.gov/pubmed/33643843 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100726 |
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