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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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Bogdańska, Anna, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892981/
https://www.ncbi.nlm.nih.gov/pubmed/33643843
http://dx.doi.org/10.1016/j.ymgmr.2021.100726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892981/
https://www.ncbi.nlm.nih.gov/pubmed/33643843
http://dx.doi.org/10.1016/j.ymgmr.2021.100726

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