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PMM2‐CDG caused by uniparental disomy: Case report and literature review
BACKGROUND: Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins. This disorder causes multisystem involvement with a high variability among patients. PMM2‐CDG is an autosomal recessive disor...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7358672/ https://ncbi.nlm.nih.gov/pubmed/32685345 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12122 |
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