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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

BACKGROUND: The congenital disorders of glycosylation (CDG) are a heterogeneous group of rare metabolic diseases with multi-system involvement. The liver phenotype of CDG varies not only according to the specific disorder, but also from patient to patient. In this study, we sought to identify common...

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Detalles Bibliográficos
Autores principales: Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A., Lam, Christina, Edmondson, Andrew C., Schwartz, Ida Vanessa Doederlein, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788939/
https://www.ncbi.nlm.nih.gov/pubmed/33413482
http://dx.doi.org/10.1186/s13023-020-01630-2