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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Publicat a:JIMD Rep
Autors principals: Vaes, Laurien, Tiller, George E., Pérez, Belén, Boyer, Suzanne W., Berry, Susan A., Sarafoglou, Kyriakie, Morava, Eva
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Case Reports
Accés en línia: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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