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PMM2‐CDG and nephrotic syndrome: A case report

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can cause systemic involvement and considerable phenot...

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Detalles Bibliográficos
Autores principales: Banderali, Giuseppe, Salvatici, Elisabetta, Rovelli, Valentina, Jaeken, Jaak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829655/
https://www.ncbi.nlm.nih.gov/pubmed/35154715
http://dx.doi.org/10.1002/ccr3.5347