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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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Foilsithe in:Mol Genet Metab Rep
Main Authors: Lipiński, Patryk, Bogdańska, Anna, Tylki-Szymańska, Anna
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2021
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Rochtain Ar Líne: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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