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Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis
N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis, however, is often delayed. The aim of this study is...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792486/ https://www.ncbi.nlm.nih.gov/pubmed/36583024 http://dx.doi.org/10.3389/fgene.2022.1019283 |