The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000. In contrast, the prevalence of other CDG types remains unknown. This study aimed to analyze the estimated preva...

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Detalles Bibliográficos
Autores principales: Pajusalu, Sander, Vals, Mari-Anne, Mihkla, Laura, Šamarina, Ustina, Kahre, Tiina, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383291/
https://www.ncbi.nlm.nih.gov/pubmed/34447415
http://dx.doi.org/10.3389/fgene.2021.719437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383291/
https://www.ncbi.nlm.nih.gov/pubmed/34447415
http://dx.doi.org/10.3389/fgene.2021.719437

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