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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...
Autores principales: | Banderali, Giuseppe, Salvatici, Elisabetta, Rovelli, Valentina, Jaeken, Jaak |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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 |
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